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Entry
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- *610936 - PHOSPHOSERINE AMINOTRANSFERASE 1; PSAT1
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- OMIM
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<p>
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<span class="h4">*610936</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/610936">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000135069;t=ENST00000376588" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=29968" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=610936" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="small">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000135069;t=ENST00000376588" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_021154,NM_058179" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_058179" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=610936" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=17918&isoform_id=17918_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/PSAT1" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/5326802,10863955,12654301,13436074,16741698,17390289,17402893,20141815,25140375,30582519,119583021,119583022,119583023,119583024,119583025,119583026,119583027,161015865,194379726,194379874" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q9Y617" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=29968" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000135069;t=ENST00000376588" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAT1" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=PSAT1" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+29968" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/PSAT1" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:29968" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/29968" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr9&hgg_gene=ENST00000376588.4&hgg_start=78297125&hgg_end=78330093&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19129" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:19129" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=610936[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=610936[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/PSAT1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000135069" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=PSAT1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=PSAT1" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PSAT1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=PSAT1&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA128395782" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:19129" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0014427.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2183441" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/PSAT1#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:2183441" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/29968/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=29968" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00009177;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-5723" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:29968" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=PSAT1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 718603002<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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610936
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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PHOSPHOSERINE AMINOTRANSFERASE 1; PSAT1
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</span>
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</h3>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
PSAT<br />
|
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ENDOMETRIAL PROGESTERONE-INDUCED PROTEIN; EPIP
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PSAT1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PSAT1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
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<em>
|
|
Cytogenetic location: <a href="/geneMap/9/261?start=-3&limit=10&highlight=261">9q21.2</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:78297125-78330093&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">9:78,297,125-78,330,093</a> </span>
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</em>
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=616038,610992" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/9/261?start=-3&limit=10&highlight=261">
|
|
9q21.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Neu-Laxova syndrome 2
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/616038"> 616038 </a>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Phosphoserine aminotransferase deficiency
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/610992"> 610992 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
|
</tr>
|
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</tbody>
|
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</table>
|
|
</div>
|
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</div>
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<p>L-serine serves as a building block for protein synthesis and can be modified in different metabolic pathways to generate several essential compounds. Although it is available from dietary sources, L-serine can be synthesized from 3-phosphoglycerate via 3 enzymatic steps in the phosphorylated pathway. PSAT (<a href="https://enzyme.expasy.org/EC/2.6.1.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.6.1.52</a>) catalyzes the second step in the pathway, conversion of 3-phosphohydroxypyruvate into 3-phosphoserine (<a href="#2" class="mim-tip-reference" title="Baek, J. Y., Jun, D. Y., Taub, D., Kim, Y. H. <strong>Characterization of human phosphoserine aminotransferase involved in the phosphorylated pathway of L-serine biosynthesis.</strong> Biochem. J. 373: 191-200, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12633500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12633500</a>] [<a href="https://doi.org/10.1042/BJ20030144" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12633500">Baek et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12633500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Baek, J. Y., Jun, D. Y., Taub, D., Kim, Y. H. <strong>Characterization of human phosphoserine aminotransferase involved in the phosphorylated pathway of L-serine biosynthesis.</strong> Biochem. J. 373: 191-200, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12633500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12633500</a>] [<a href="https://doi.org/10.1042/BJ20030144" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12633500">Baek et al. (2003)</a> cloned 2 PSAT1 splice variants, which they called PSAT-alpha and -beta, from a human Jurkat T-cell cDNA library. The full-length PSAT-beta transcript encodes a deduced 370-amino acid protein with a calculated molecular mass of 40 kD. PSAT-alpha lacks exon 8 and encodes a deduced 324-amino acid protein with a calculated molecular mass of 35.2 kD. Compared with PSAT-beta, PSAT-alpha lacks 46 amino acids. Both proteins contain a conserved binding domain for the cofactor pyridoxal 5-prime-phosphate (vitamin B6). PSAT-beta shares 92.4% amino acid similarity with its mouse homolog. PSAT-beta orthologs were present in all species examined, including plants, insects, and bacteria. Northern blot analysis detected highest expression of a 2.2-kb transcript in brain, liver, kidney, and pancreas, with weaker expression in thymus, prostate, testis, and colon. No expression was detected in spleen, ovary, small intestine, peripheral blood mononuclear cells, heart, placenta, lung, and skeletal muscle. RT-PCR detected both variants in all human cell lines examined, and PSAT-beta was always the more abundant form. Western blot analysis detected the 40-kD PSAT-beta protein in all human cell lines examined, whereas the 32.5-kD PSAT-alpha protein was only weakly expressed in hepatoma and chronic myelogenous leukemia cell lines. The level of PSAT-beta protein was proportional to the amount of PSAT-beta mRNA detected in these cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12633500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Baek, J. Y., Jun, D. Y., Taub, D., Kim, Y. H. <strong>Characterization of human phosphoserine aminotransferase involved in the phosphorylated pathway of L-serine biosynthesis.</strong> Biochem. J. 373: 191-200, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12633500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12633500</a>] [<a href="https://doi.org/10.1042/BJ20030144" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12633500">Baek et al. (2003)</a> determined that the PSAT gene contains 9 exons and spans 56 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12633500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#2" class="mim-tip-reference" title="Baek, J. Y., Jun, D. Y., Taub, D., Kim, Y. H. <strong>Characterization of human phosphoserine aminotransferase involved in the phosphorylated pathway of L-serine biosynthesis.</strong> Biochem. J. 373: 191-200, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12633500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12633500</a>] [<a href="https://doi.org/10.1042/BJ20030144" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12633500">Baek et al. (2003)</a> mapped the PSAT1 gene to chromosome 9q21.31. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12633500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using Northern blot analysis, <a href="#7" class="mim-tip-reference" title="Misrahi, M., Atger, M., Milgrom, E. <strong>A novel progesterone-induced messenger RNA in rabbit and human endometria: cloning and sequence analysis of the complementary cDNA.</strong> Biochemistry 26: 3975-3982, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3651428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3651428</a>] [<a href="https://doi.org/10.1021/bi00387a035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3651428">Misrahi et al. (1987)</a> showed that Psat, which they called Epip, was upregulated in a dose-dependent manner by progesterone and more weakly by estradiol in rabbit endometrium. Progesterone and estradiol inhibitors decreased the elicited Psat expression. PSAT mRNA was detected in human endometrium during the luteal phase, but not during the follicular phase or during pregnancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3651428" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Baek, J. Y., Jun, D. Y., Taub, D., Kim, Y. H. <strong>Characterization of human phosphoserine aminotransferase involved in the phosphorylated pathway of L-serine biosynthesis.</strong> Biochem. J. 373: 191-200, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12633500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12633500</a>] [<a href="https://doi.org/10.1042/BJ20030144" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12633500">Baek et al. (2003)</a> found that enzymatic activity of recombinant PSAT-beta was nearly 7 times higher than that of PSAT-alpha, which showed barely detectable activity. Both PSAT-alpha and -beta could rescue deletion of their S. cerevisiae counterpart. Northern blot analysis of synchronized Jurkat T cells showed that expression of PSAT reached a maximum in S phase and decreased to basal levels as cells moved to the G2/M boundary. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12633500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#6" class="mim-tip-reference" title="Hart, C. E., Race, V., Achouri, Y., Wiame, E., Sharrard, M., Olpin, S. E., Watkinson, J., Bonham, J. R., Jaeken, J., Matthijs, G., Van Schaftingen, E. <strong>Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.</strong> Am. J. Hum. Genet. 80: 931-937, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436247</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436247[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/517888" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436247">Hart et al. (2007)</a> identified PSAT deficiency (PSATD; <a href="/entry/610992">610992</a>) in a brother and sister who showed low concentrations of serine and glycine in plasma and cerebrospinal fluid. The index patient presented with intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation and died at age 7 months despite supplementation with serine and glycine from age 11 weeks. His sister received treatment from birth, which led to a normal outcome at age 3 years. Measurement of PSAT1 activity in cultured fibroblasts in the index patient was inconclusive, but mutational analysis revealed compound heterozygosity for mutations in the PSAT1 gene in both sibs: a frameshift mutation (G107del; <a href="#0001">610936.0001</a>) and a missense mutation (D100A; <a href="#0002">610936.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17436247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 7-month-old female with PSAT deficiency, <a href="#5" class="mim-tip-reference" title="Glinton, K. E., Benke, P. J., Lines, M. A., Geraghty, M. T., Chakraborty, P., Al-Dirbashi, O. Y., Jiang, Y., Kennedy, A. D., Grotewiel, M. S., Sutton, V. R., Elsea, S. H., El-Hattab, A. W. <strong>Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.</strong> Molec. Genet. Metab. 123: 309-316, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29269105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29269105</a>] [<a href="https://doi.org/10.1016/j.ymgme.2017.12.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29269105">Glinton et al. (2018)</a> identified compound heterozygous mutations in the PSAT1 gene (c.432delA, <a href="#0006">610936.0006</a> and A15V, <a href="#0007">610936.0007</a>). Plasma amino acids showed low serine and low/normal glycine, and CSF amino acids showed low serine and normal glycine. Analysis of the newborn screening blood spot of this patient showed low serine with a Z-score of -2.4. Metabolomic analysis in plasma showed low glycerophospholipids including low phosphatidylcholine, suggesting that PSAT may play a role in CNS development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29269105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Debs, S., Ferreira, C. R., Groden, C., Kim, H. J., King, K. A., King, M. C., Lehky, T., Cowen, E. W., Brown, L. H., Merideth, M., Owen, C. M., Macnamara, E., Toro, C., Gahl, W. A., Soldatos, A. <strong>Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.</strong> Am. J. Med. Genet. 185A: 2102-2107, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34089226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34089226</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34089226[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.62245" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34089226">Debs et al. (2021)</a> identified compound heterozygous mutations in the PSAT1 gene (T156M, <a href="/entry/610036#0008">610036.0008</a> and A15P, <a href="/entry/610036#0009">610036.0009</a>) in a woman with PSATD. The mutations were identified by whole-exome sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34089226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Turkish boy (patient 2), born to consanguineous parents, with PSATD, <a href="#3" class="mim-tip-reference" title="Brassier, A., Valayannopoulos, V., Bahi-Buisson, N., Wiame, E., Hubert, L., Boddaert, N., Kaminska, A., Habarou, F., Desguerre, I., Van Schaftingen, E., Ottolenghi, C., de Lonlay, P. <strong>Two new cases of serine deficiency disorders treated with l-serine.</strong> Europ. J. Paediat. Neurol. 20: 53-60, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26610677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26610677</a>] [<a href="https://doi.org/10.1016/j.ejpn.2015.10.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26610677">Brassier et al. (2016)</a> identified homozygosity for a S43R mutation (<a href="/entry/610036#0010">610036.0010</a>) in the PSAT1 gene. Purified PSAT1 with the S43R mutation had a decreased Vmax and increased Km compared to wildtype protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26610677" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Neu-Laxova Syndrome 2</em></strong></p><p>
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In affected patients from 6 unrelated families with Neu-Laxova syndrome-2 (NLS2; <a href="/entry/616038">616038</a>), <a href="#1" class="mim-tip-reference" title="Acuna-Hidalgo, R., Schanze, D., Kariminejad, A., Nordgren, A., Kariminejad, M. H., Conner, P., Grigelioniene, G., Nilsson, D., Nordenskjold, M., Wedell, A., Freyer, C., Wredenberg, A., and 18 others. <strong>Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.</strong> Am. J. Hum. Genet. 95: 285-293, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25152457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25152457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25152457[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.07.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25152457">Acuna-Hidalgo et al. (2014)</a> identified homozygous or compound heterozygous mutations in the PSAT1 gene (<a href="#0003">610936.0003</a>-<a href="#0005">610936.0005</a>). The mutations, which were found by homozygosity mapping combined with detailed exome sequencing, were confirmed by Sanger sequencing. The mutations segregated with the disorder in all families with available material; functional studies were not performed. <a href="#1" class="mim-tip-reference" title="Acuna-Hidalgo, R., Schanze, D., Kariminejad, A., Nordgren, A., Kariminejad, M. H., Conner, P., Grigelioniene, G., Nilsson, D., Nordenskjold, M., Wedell, A., Freyer, C., Wredenberg, A., and 18 others. <strong>Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.</strong> Am. J. Hum. Genet. 95: 285-293, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25152457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25152457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25152457[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.07.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25152457">Acuna-Hidalgo et al. (2014)</a> noted that some features of the phenotype overlapped with, but were more severe than, those reported by <a href="#6" class="mim-tip-reference" title="Hart, C. E., Race, V., Achouri, Y., Wiame, E., Sharrard, M., Olpin, S. E., Watkinson, J., Bonham, J. R., Jaeken, J., Matthijs, G., Van Schaftingen, E. <strong>Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.</strong> Am. J. Hum. Genet. 80: 931-937, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436247</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436247[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/517888" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436247">Hart et al. (2007)</a> in patients with PSAT deficiency, suggesting that the prenatal lethality of NLS2 represents the more severe end of a phenotypic spectrum. The findings emphasized the critical importance of serine availability in early embryonic and fetal development. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17436247+25152457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=610936[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777747 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777747;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587777747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001136 OR RCV001254415 OR RCV003586120" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001136, RCV001254415, RCV003586120" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001136...</a>
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<p>In 2 sibs with phosphoserine aminotransferase deficiency (PSATD; <a href="/entry/610992">610992</a>), <a href="#6" class="mim-tip-reference" title="Hart, C. E., Race, V., Achouri, Y., Wiame, E., Sharrard, M., Olpin, S. E., Watkinson, J., Bonham, J. R., Jaeken, J., Matthijs, G., Van Schaftingen, E. <strong>Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.</strong> Am. J. Hum. Genet. 80: 931-937, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436247</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436247[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/517888" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436247">Hart et al. (2007)</a> detected compound heterozygosity for mutations in the PSAT1 gene. The paternal allele carried a frameshift mutation (c.107delG) in exon 2. The maternal allele carried a c.299A-C transversion in exon 4, resulting in an asp100-to-ala (D100A) substitution (<a href="#0002">610936.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17436247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs118203967 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118203967;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118203967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs118203967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the asp100-to-ala (D100A) mutation in the PSAT1 gene that was found in compound heterozygous state in 2 sibs with PSAT deficiency (PSATD; <a href="/entry/610992">610992</a>) by <a href="#6" class="mim-tip-reference" title="Hart, C. E., Race, V., Achouri, Y., Wiame, E., Sharrard, M., Olpin, S. E., Watkinson, J., Bonham, J. R., Jaeken, J., Matthijs, G., Van Schaftingen, E. <strong>Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.</strong> Am. J. Hum. Genet. 80: 931-937, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436247</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436247[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/517888" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17436247">Hart et al. (2007)</a>, see <a href="#0001">610936.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17436247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777776 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777776;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777776" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587777776" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000144446 OR RCV001254416" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144446, RCV001254416" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144446...</a>
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<p>In a fetus, the offspring of consanguineous parents, with Neu-Laxova syndrome-2 (NLS2; <a href="/entry/616038">616038</a>), <a href="#1" class="mim-tip-reference" title="Acuna-Hidalgo, R., Schanze, D., Kariminejad, A., Nordgren, A., Kariminejad, M. H., Conner, P., Grigelioniene, G., Nilsson, D., Nordenskjold, M., Wedell, A., Freyer, C., Wredenberg, A., and 18 others. <strong>Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.</strong> Am. J. Hum. Genet. 95: 285-293, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25152457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25152457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25152457[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.07.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25152457">Acuna-Hidalgo et al. (2014)</a> identified a homozygous complex insertion/deletion mutation in the last exon of the PSAT1 gene (c.1023_1027delinsAGACCT), resulting in a frameshift and premature termination (Arg342AspfsTer6). The mutation was found by detailed reanalysis of exome sequencing data from the patient; the variant was not correctly identified by initial exome sequencing. DNA from a similarly affected sib and from the unaffected parents was not available for segregation analysis. Functional studies of the variant were not performed, but skin biopsy obtained from the fetus showed normal mRNA levels, suggesting that the mutation does not lead to an unstable RNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25152457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587777778 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777778;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs587777778?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587777778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000144448 OR RCV001254372" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144448, RCV001254372" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144448...</a>
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<p>In 2 affected stillborn fetuses and an affected preterm newborn who died within the first week of life with Neu-Laxova syndrome-2 (NLS2; <a href="/entry/616038">616038</a>), all from different families, <a href="#1" class="mim-tip-reference" title="Acuna-Hidalgo, R., Schanze, D., Kariminejad, A., Nordgren, A., Kariminejad, M. H., Conner, P., Grigelioniene, G., Nilsson, D., Nordenskjold, M., Wedell, A., Freyer, C., Wredenberg, A., and 18 others. <strong>Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.</strong> Am. J. Hum. Genet. 95: 285-293, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25152457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25152457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25152457[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.07.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25152457">Acuna-Hidalgo et al. (2014)</a> identified a homozygous c.296C-T transition in the PSAT1 gene, resulting in an ala99-to-val (A99V) substitution at a highly conserved residue. The mutation was found by detailed reanalysis of exome sequencing data from the first patient; it was not correctly identified by initial exome sequencing because of its proximity to a known SNP. An affected newborn from a fourth family was found to be compound heterozygous for A99V and S179L (<a href="#0005">610936.0005</a>). All 4 families originated from the Middle East and had either Iranian or Turkish ancestry, suggesting a founder effect that was confirmed by haplotype analysis in 2 Turkish families. The mutation was not found in the Exome Variant Server database; functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25152457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587777777 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777777;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs587777777?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587777777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000144447 OR RCV001254512" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144447, RCV001254512" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144447...</a>
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<p>In the unaffected parents and an unaffected sib of a fetus with Neu-Laxova syndrome-2 (NLS2; <a href="/entry/616038">616038</a>), <a href="#1" class="mim-tip-reference" title="Acuna-Hidalgo, R., Schanze, D., Kariminejad, A., Nordgren, A., Kariminejad, M. H., Conner, P., Grigelioniene, G., Nilsson, D., Nordenskjold, M., Wedell, A., Freyer, C., Wredenberg, A., and 18 others. <strong>Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.</strong> Am. J. Hum. Genet. 95: 285-293, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25152457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25152457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25152457[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.07.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25152457">Acuna-Hidalgo et al. (2014)</a> identified a heterozygous c.536C-T transition in the PSAT1 gene, resulting in a ser179-to-leu (S179L) substitution at a highly conserved residue close to the cofactor binding site. The parents were related, suggesting that the affected fetus was homozygous for the mutation, but only low-quality DNA extracted from formalin-fixed paraffin-embedded material was available from the fetus. The S179L mutation was found in compound heterozygosity with another pathogenic PSAT1 mutation (A99V; <a href="#0004">610936.0004</a>) in a hypotrophic newborn who died at age 10 days. The S179L mutation was not found in the Exome Variant Server database; functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25152457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1554686365 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554686365;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1554686365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1554686365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000521804 OR RCV003388586" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000521804, RCV003388586" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000521804...</a>
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<p>By whole-exome sequencing in a patient with infantile phosphoserine aminotransferase deficiency (PSATD; <a href="/entry/610992">610992</a>), <a href="#5" class="mim-tip-reference" title="Glinton, K. E., Benke, P. J., Lines, M. A., Geraghty, M. T., Chakraborty, P., Al-Dirbashi, O. Y., Jiang, Y., Kennedy, A. D., Grotewiel, M. S., Sutton, V. R., Elsea, S. H., El-Hattab, A. W. <strong>Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.</strong> Molec. Genet. Metab. 123: 309-316, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29269105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29269105</a>] [<a href="https://doi.org/10.1016/j.ymgme.2017.12.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29269105">Glinton et al. (2018)</a> identified compound heterozygous mutations in the PSAT1 gene: a 1-bp deletion (c.432delA), predicting a frameshift and a premature termination codon (Glu145MetfsTer49), and a c.44C-T transition, resulting in an ala15-to-val (A15V; <a href="/entry/610036#0007">610036.0007</a>) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29269105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1554685353 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554685353;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1554685353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1554685353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000523830 OR RCV003388587" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000523830, RCV003388587" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000523830...</a>
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<p>For discussion of the c.44C-T transition in the PSAT1 gene, resulting in an ala15-to-val (A15V) substitution, that was found in compound heterozygous state in a patient with infantile PSAT deficiency (PSATD; <a href="/entry/610992">610992</a>) by <a href="#5" class="mim-tip-reference" title="Glinton, K. E., Benke, P. J., Lines, M. A., Geraghty, M. T., Chakraborty, P., Al-Dirbashi, O. Y., Jiang, Y., Kennedy, A. D., Grotewiel, M. S., Sutton, V. R., Elsea, S. H., El-Hattab, A. W. <strong>Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.</strong> Molec. Genet. Metab. 123: 309-316, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29269105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29269105</a>] [<a href="https://doi.org/10.1016/j.ymgme.2017.12.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29269105">Glinton et al. (2018)</a>, see <a href="#0006">610936.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29269105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs369944396 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs369944396;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs369944396?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs369944396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs369944396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001254449 OR RCV001879894 OR RCV003991539" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001254449, RCV001879894, RCV003991539" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001254449...</a>
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<p>In a woman with phosphoserine aminotransferase deficiency (PSATD; <a href="/entry/610992">610992</a>), <a href="#4" class="mim-tip-reference" title="Debs, S., Ferreira, C. R., Groden, C., Kim, H. J., King, K. A., King, M. C., Lehky, T., Cowen, E. W., Brown, L. H., Merideth, M., Owen, C. M., Macnamara, E., Toro, C., Gahl, W. A., Soldatos, A. <strong>Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.</strong> Am. J. Med. Genet. 185A: 2102-2107, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34089226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34089226</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34089226[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.62245" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34089226">Debs et al. (2021)</a> identified compound heterozygous mutations in the PSAT1 gene: a c.467C-T transition (c.467C-T, NM_058179.2), resulting in a thr156-to-met (T156M) substitution, and a c.43G-C transversion, resulting in an ala15-to-pro (A15P; <a href="/entry/610036#0009">610036.0009</a>) substitution. The mutations were identified by whole-exome sequencing. The A15P mutation was present in the gnomAD database (v2.1.1) at an allele frequency of 12/258286, and the T156M mutation was present in the gnomAD database (v2.1.1) at an allele frequency of 24/282878. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34089226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
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<strong>.0009 PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs774962204 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs774962204;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs774962204?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs774962204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs774962204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000390253 OR RCV001252716 OR RCV001254429 OR RCV001861350" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000390253, RCV001252716, RCV001254429, RCV001861350" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000390253...</a>
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<p>For discussion of the c.43G-C transversion (c.43G-C, NM_058179.2) in the PSAT1 gene, resulting in an ala15-to-pro (A15P) substitution, that was identified in compound heterozygous state in a patient with phosphoserine aminotransferase deficiency (PSATD; <a href="/entry/610992">610992</a>) by <a href="#4" class="mim-tip-reference" title="Debs, S., Ferreira, C. R., Groden, C., Kim, H. J., King, K. A., King, M. C., Lehky, T., Cowen, E. W., Brown, L. H., Merideth, M., Owen, C. M., Macnamara, E., Toro, C., Gahl, W. A., Soldatos, A. <strong>Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.</strong> Am. J. Med. Genet. 185A: 2102-2107, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34089226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34089226</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34089226[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.62245" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34089226">Debs et al. (2021)</a>, see <a href="/entry/610036#0008">610036.0008</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34089226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY</strong>
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PSAT1, SER43ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1828113460 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1828113460;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1828113460" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1828113460" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001254541 OR RCV004004918" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001254541, RCV004004918" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001254541...</a>
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<p>In a Turkish boy (patient 2), born to consanguineous parents, with phosphoserine aminotransferase deficiency (PSATD; <a href="/entry/610992">610992</a>), <a href="#3" class="mim-tip-reference" title="Brassier, A., Valayannopoulos, V., Bahi-Buisson, N., Wiame, E., Hubert, L., Boddaert, N., Kaminska, A., Habarou, F., Desguerre, I., Van Schaftingen, E., Ottolenghi, C., de Lonlay, P. <strong>Two new cases of serine deficiency disorders treated with l-serine.</strong> Europ. J. Paediat. Neurol. 20: 53-60, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26610677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26610677</a>] [<a href="https://doi.org/10.1016/j.ejpn.2015.10.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26610677">Brassier et al. (2016)</a> identified homozygosity for a c.129T-G transversion in the PSAT1 gene, resulting in a ser43-to-arg (S43R) substitution at a conserved residue. The mutation was identified by microsatellite homozygosity mapping and the parents were mutation carriers. Purified PSAT1 with the S43R mutation had a decreased Vmax and increased Km compared to wildtype protein. The patient had very low levels of serine in the plasma and cerebrospinal fluid. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26610677" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Acuna-Hidalgo2014" class="mim-anchor"></a>
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Acuna-Hidalgo, R., Schanze, D., Kariminejad, A., Nordgren, A., Kariminejad, M. H., Conner, P., Grigelioniene, G., Nilsson, D., Nordenskjold, M., Wedell, A., Freyer, C., Wredenberg, A., and 18 others.
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<strong>Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.</strong>
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Am. J. Hum. Genet. 95: 285-293, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25152457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25152457</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25152457[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25152457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2014.07.012" target="_blank">Full Text</a>]
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Baek, J. Y., Jun, D. Y., Taub, D., Kim, Y. H.
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<strong>Characterization of human phosphoserine aminotransferase involved in the phosphorylated pathway of L-serine biosynthesis.</strong>
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Biochem. J. 373: 191-200, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12633500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12633500</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12633500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1042/BJ20030144" target="_blank">Full Text</a>]
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<a id="Brassier2016" class="mim-anchor"></a>
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Brassier, A., Valayannopoulos, V., Bahi-Buisson, N., Wiame, E., Hubert, L., Boddaert, N., Kaminska, A., Habarou, F., Desguerre, I., Van Schaftingen, E., Ottolenghi, C., de Lonlay, P.
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<strong>Two new cases of serine deficiency disorders treated with l-serine.</strong>
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Europ. J. Paediat. Neurol. 20: 53-60, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26610677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26610677</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26610677" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ejpn.2015.10.007" target="_blank">Full Text</a>]
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<a id="Debs2021" class="mim-anchor"></a>
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Debs, S., Ferreira, C. R., Groden, C., Kim, H. J., King, K. A., King, M. C., Lehky, T., Cowen, E. W., Brown, L. H., Merideth, M., Owen, C. M., Macnamara, E., Toro, C., Gahl, W. A., Soldatos, A.
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<strong>Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.</strong>
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Am. J. Med. Genet. 185A: 2102-2107, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34089226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34089226</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34089226[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34089226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.62245" target="_blank">Full Text</a>]
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Glinton, K. E., Benke, P. J., Lines, M. A., Geraghty, M. T., Chakraborty, P., Al-Dirbashi, O. Y., Jiang, Y., Kennedy, A. D., Grotewiel, M. S., Sutton, V. R., Elsea, S. H., El-Hattab, A. W.
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<strong>Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.</strong>
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Molec. Genet. Metab. 123: 309-316, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29269105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29269105</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29269105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2017.12.009" target="_blank">Full Text</a>]
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Hart, C. E., Race, V., Achouri, Y., Wiame, E., Sharrard, M., Olpin, S. E., Watkinson, J., Bonham, J. R., Jaeken, J., Matthijs, G., Van Schaftingen, E.
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<strong>Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.</strong>
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Am. J. Hum. Genet. 80: 931-937, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17436247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17436247</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17436247[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17436247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/517888" target="_blank">Full Text</a>]
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Misrahi, M., Atger, M., Milgrom, E.
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<strong>A novel progesterone-induced messenger RNA in rabbit and human endometria: cloning and sequence analysis of the complementary cDNA.</strong>
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Biochemistry 26: 3975-3982, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3651428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3651428</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3651428" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1021/bi00387a035" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 04/08/2024
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Hilary J. Vernon - updated : 05/27/2020<br>Cassandra L. Kniffin - updated : 9/30/2014<br>Victor A. McKusick - updated : 5/1/2007
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Patricia A. Hartz : 4/17/2007
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carol : 05/14/2024
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/08/2024<br>carol : 05/27/2020<br>mcolton : 07/31/2015<br>carol : 10/2/2014<br>mcolton : 10/1/2014<br>ckniffin : 9/30/2014<br>alopez : 5/2/2007<br>terry : 5/1/2007<br>mgross : 4/17/2007
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<h3>
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<span class="mim-font">
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<strong>*</strong> 610936
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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PHOSPHOSERINE AMINOTRANSFERASE 1; PSAT1
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</span>
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</h3>
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<br />
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<div >
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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PSAT<br />
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ENDOMETRIAL PROGESTERONE-INDUCED PROTEIN; EPIP
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</h4>
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</div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PSAT1</em></strong>
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</span>
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</p>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 718603002;
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</span>
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</p>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 9q21.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:78,297,125-78,330,093 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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9q21.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Neu-Laxova syndrome 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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616038
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</span>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<span class="mim-font">
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Phosphoserine aminotransferase deficiency
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</td>
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<span class="mim-font">
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610992
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>L-serine serves as a building block for protein synthesis and can be modified in different metabolic pathways to generate several essential compounds. Although it is available from dietary sources, L-serine can be synthesized from 3-phosphoglycerate via 3 enzymatic steps in the phosphorylated pathway. PSAT (EC 2.6.1.52) catalyzes the second step in the pathway, conversion of 3-phosphohydroxypyruvate into 3-phosphoserine (Baek et al., 2003). </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Baek et al. (2003) cloned 2 PSAT1 splice variants, which they called PSAT-alpha and -beta, from a human Jurkat T-cell cDNA library. The full-length PSAT-beta transcript encodes a deduced 370-amino acid protein with a calculated molecular mass of 40 kD. PSAT-alpha lacks exon 8 and encodes a deduced 324-amino acid protein with a calculated molecular mass of 35.2 kD. Compared with PSAT-beta, PSAT-alpha lacks 46 amino acids. Both proteins contain a conserved binding domain for the cofactor pyridoxal 5-prime-phosphate (vitamin B6). PSAT-beta shares 92.4% amino acid similarity with its mouse homolog. PSAT-beta orthologs were present in all species examined, including plants, insects, and bacteria. Northern blot analysis detected highest expression of a 2.2-kb transcript in brain, liver, kidney, and pancreas, with weaker expression in thymus, prostate, testis, and colon. No expression was detected in spleen, ovary, small intestine, peripheral blood mononuclear cells, heart, placenta, lung, and skeletal muscle. RT-PCR detected both variants in all human cell lines examined, and PSAT-beta was always the more abundant form. Western blot analysis detected the 40-kD PSAT-beta protein in all human cell lines examined, whereas the 32.5-kD PSAT-alpha protein was only weakly expressed in hepatoma and chronic myelogenous leukemia cell lines. The level of PSAT-beta protein was proportional to the amount of PSAT-beta mRNA detected in these cell lines. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Baek et al. (2003) determined that the PSAT gene contains 9 exons and spans 56 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Baek et al. (2003) mapped the PSAT1 gene to chromosome 9q21.31. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using Northern blot analysis, Misrahi et al. (1987) showed that Psat, which they called Epip, was upregulated in a dose-dependent manner by progesterone and more weakly by estradiol in rabbit endometrium. Progesterone and estradiol inhibitors decreased the elicited Psat expression. PSAT mRNA was detected in human endometrium during the luteal phase, but not during the follicular phase or during pregnancy. </p><p>Baek et al. (2003) found that enzymatic activity of recombinant PSAT-beta was nearly 7 times higher than that of PSAT-alpha, which showed barely detectable activity. Both PSAT-alpha and -beta could rescue deletion of their S. cerevisiae counterpart. Northern blot analysis of synchronized Jurkat T cells showed that expression of PSAT reached a maximum in S phase and decreased to basal levels as cells moved to the G2/M boundary. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Phosphoserine Aminotransferase Deficiency</em></strong></p><p>
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Hart et al. (2007) identified PSAT deficiency (PSATD; 610992) in a brother and sister who showed low concentrations of serine and glycine in plasma and cerebrospinal fluid. The index patient presented with intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation and died at age 7 months despite supplementation with serine and glycine from age 11 weeks. His sister received treatment from birth, which led to a normal outcome at age 3 years. Measurement of PSAT1 activity in cultured fibroblasts in the index patient was inconclusive, but mutational analysis revealed compound heterozygosity for mutations in the PSAT1 gene in both sibs: a frameshift mutation (G107del; 610936.0001) and a missense mutation (D100A; 610936.0002). </p><p>In a 7-month-old female with PSAT deficiency, Glinton et al. (2018) identified compound heterozygous mutations in the PSAT1 gene (c.432delA, 610936.0006 and A15V, 610936.0007). Plasma amino acids showed low serine and low/normal glycine, and CSF amino acids showed low serine and normal glycine. Analysis of the newborn screening blood spot of this patient showed low serine with a Z-score of -2.4. Metabolomic analysis in plasma showed low glycerophospholipids including low phosphatidylcholine, suggesting that PSAT may play a role in CNS development. </p><p>Debs et al. (2021) identified compound heterozygous mutations in the PSAT1 gene (T156M, 610036.0008 and A15P, 610036.0009) in a woman with PSATD. The mutations were identified by whole-exome sequencing. </p><p>In a Turkish boy (patient 2), born to consanguineous parents, with PSATD, Brassier et al. (2016) identified homozygosity for a S43R mutation (610036.0010) in the PSAT1 gene. Purified PSAT1 with the S43R mutation had a decreased Vmax and increased Km compared to wildtype protein. </p><p><strong><em>Neu-Laxova Syndrome 2</em></strong></p><p>
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In affected patients from 6 unrelated families with Neu-Laxova syndrome-2 (NLS2; 616038), Acuna-Hidalgo et al. (2014) identified homozygous or compound heterozygous mutations in the PSAT1 gene (610936.0003-610936.0005). The mutations, which were found by homozygosity mapping combined with detailed exome sequencing, were confirmed by Sanger sequencing. The mutations segregated with the disorder in all families with available material; functional studies were not performed. Acuna-Hidalgo et al. (2014) noted that some features of the phenotype overlapped with, but were more severe than, those reported by Hart et al. (2007) in patients with PSAT deficiency, suggesting that the prenatal lethality of NLS2 represents the more severe end of a phenotypic spectrum. The findings emphasized the critical importance of serine availability in early embryonic and fetal development. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>10 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PSAT1, 1-BP DEL, 107G
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<br />
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SNP: rs587777747,
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ClinVar: RCV000001136, RCV001254415, RCV003586120
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 sibs with phosphoserine aminotransferase deficiency (PSATD; 610992), Hart et al. (2007) detected compound heterozygosity for mutations in the PSAT1 gene. The paternal allele carried a frameshift mutation (c.107delG) in exon 2. The maternal allele carried a c.299A-C transversion in exon 4, resulting in an asp100-to-ala (D100A) substitution (610936.0002). </p>
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</div>
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<div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PSAT1, ASP100ALA
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<br />
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SNP: rs118203967,
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ClinVar: RCV000001137, RCV001254373, RCV003586121
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the asp100-to-ala (D100A) mutation in the PSAT1 gene that was found in compound heterozygous state in 2 sibs with PSAT deficiency (PSATD; 610992) by Hart et al. (2007), see 610936.0001. </p>
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</span>
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</div>
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<div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 NEU-LAXOVA SYNDROME 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PSAT1, DEL/INS, NT1023
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<br />
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SNP: rs587777776,
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ClinVar: RCV000144446, RCV001254416
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a fetus, the offspring of consanguineous parents, with Neu-Laxova syndrome-2 (NLS2; 616038), Acuna-Hidalgo et al. (2014) identified a homozygous complex insertion/deletion mutation in the last exon of the PSAT1 gene (c.1023_1027delinsAGACCT), resulting in a frameshift and premature termination (Arg342AspfsTer6). The mutation was found by detailed reanalysis of exome sequencing data from the patient; the variant was not correctly identified by initial exome sequencing. DNA from a similarly affected sib and from the unaffected parents was not available for segregation analysis. Functional studies of the variant were not performed, but skin biopsy obtained from the fetus showed normal mRNA levels, suggesting that the mutation does not lead to an unstable RNA. </p>
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</span>
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</div>
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<div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 NEU-LAXOVA SYNDROME 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PSAT1, ALA99VAL
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<br />
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SNP: rs587777778,
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gnomAD: rs587777778,
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ClinVar: RCV000144448, RCV001254372
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 affected stillborn fetuses and an affected preterm newborn who died within the first week of life with Neu-Laxova syndrome-2 (NLS2; 616038), all from different families, Acuna-Hidalgo et al. (2014) identified a homozygous c.296C-T transition in the PSAT1 gene, resulting in an ala99-to-val (A99V) substitution at a highly conserved residue. The mutation was found by detailed reanalysis of exome sequencing data from the first patient; it was not correctly identified by initial exome sequencing because of its proximity to a known SNP. An affected newborn from a fourth family was found to be compound heterozygous for A99V and S179L (610936.0005). All 4 families originated from the Middle East and had either Iranian or Turkish ancestry, suggesting a founder effect that was confirmed by haplotype analysis in 2 Turkish families. The mutation was not found in the Exome Variant Server database; functional studies of the variant were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 NEU-LAXOVA SYNDROME 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PSAT1, SER179LEU
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<br />
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SNP: rs587777777,
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gnomAD: rs587777777,
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ClinVar: RCV000144447, RCV001254512
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In the unaffected parents and an unaffected sib of a fetus with Neu-Laxova syndrome-2 (NLS2; 616038), Acuna-Hidalgo et al. (2014) identified a heterozygous c.536C-T transition in the PSAT1 gene, resulting in a ser179-to-leu (S179L) substitution at a highly conserved residue close to the cofactor binding site. The parents were related, suggesting that the affected fetus was homozygous for the mutation, but only low-quality DNA extracted from formalin-fixed paraffin-embedded material was available from the fetus. The S179L mutation was found in compound heterozygosity with another pathogenic PSAT1 mutation (A99V; 610936.0004) in a hypotrophic newborn who died at age 10 days. The S179L mutation was not found in the Exome Variant Server database; functional studies of the variant were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PSAT1, 1-BP DEL, 432A
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<br />
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SNP: rs1554686365,
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ClinVar: RCV000521804, RCV003388586
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>By whole-exome sequencing in a patient with infantile phosphoserine aminotransferase deficiency (PSATD; 610992), Glinton et al. (2018) identified compound heterozygous mutations in the PSAT1 gene: a 1-bp deletion (c.432delA), predicting a frameshift and a premature termination codon (Glu145MetfsTer49), and a c.44C-T transition, resulting in an ala15-to-val (A15V; 610036.0007) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PSAT1, ALA15VAL
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<br />
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SNP: rs1554685353,
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ClinVar: RCV000523830, RCV003388587
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the c.44C-T transition in the PSAT1 gene, resulting in an ala15-to-val (A15V) substitution, that was found in compound heterozygous state in a patient with infantile PSAT deficiency (PSATD; 610992) by Glinton et al. (2018), see 610936.0006. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0008 PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PSAT1, THR156MET
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<br />
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SNP: rs369944396,
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gnomAD: rs369944396,
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ClinVar: RCV001254449, RCV001879894, RCV003991539
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a woman with phosphoserine aminotransferase deficiency (PSATD; 610992), Debs et al. (2021) identified compound heterozygous mutations in the PSAT1 gene: a c.467C-T transition (c.467C-T, NM_058179.2), resulting in a thr156-to-met (T156M) substitution, and a c.43G-C transversion, resulting in an ala15-to-pro (A15P; 610036.0009) substitution. The mutations were identified by whole-exome sequencing. The A15P mutation was present in the gnomAD database (v2.1.1) at an allele frequency of 12/258286, and the T156M mutation was present in the gnomAD database (v2.1.1) at an allele frequency of 24/282878. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0009 PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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PSAT1, ALA15PRO
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<br />
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SNP: rs774962204,
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gnomAD: rs774962204,
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|
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ClinVar: RCV000390253, RCV001252716, RCV001254429, RCV001861350
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.43G-C transversion (c.43G-C, NM_058179.2) in the PSAT1 gene, resulting in an ala15-to-pro (A15P) substitution, that was identified in compound heterozygous state in a patient with phosphoserine aminotransferase deficiency (PSATD; 610992) by Debs et al. (2021), see 610036.0008. </p>
|
|
</span>
|
|
</div>
|
|
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
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<span class="mim-text-font">
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PSAT1, SER43ARG
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|
<br />
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|
|
|
SNP: rs1828113460,
|
|
|
|
|
|
|
|
ClinVar: RCV001254541, RCV004004918
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Turkish boy (patient 2), born to consanguineous parents, with phosphoserine aminotransferase deficiency (PSATD; 610992), Brassier et al. (2016) identified homozygosity for a c.129T-G transversion in the PSAT1 gene, resulting in a ser43-to-arg (S43R) substitution at a conserved residue. The mutation was identified by microsatellite homozygosity mapping and the parents were mutation carriers. Purified PSAT1 with the S43R mutation had a decreased Vmax and increased Km compared to wildtype protein. The patient had very low levels of serine in the plasma and cerebrospinal fluid. </p>
|
|
</span>
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|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Acuna-Hidalgo, R., Schanze, D., Kariminejad, A., Nordgren, A., Kariminejad, M. H., Conner, P., Grigelioniene, G., Nilsson, D., Nordenskjold, M., Wedell, A., Freyer, C., Wredenberg, A., and 18 others.
|
|
<strong>Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.</strong>
|
|
Am. J. Hum. Genet. 95: 285-293, 2014.
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|
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|
|
[PubMed: 25152457]
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[Full Text: https://doi.org/10.1016/j.ajhg.2014.07.012]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Baek, J. Y., Jun, D. Y., Taub, D., Kim, Y. H.
|
|
<strong>Characterization of human phosphoserine aminotransferase involved in the phosphorylated pathway of L-serine biosynthesis.</strong>
|
|
Biochem. J. 373: 191-200, 2003.
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|
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[PubMed: 12633500]
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[Full Text: https://doi.org/10.1042/BJ20030144]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Brassier, A., Valayannopoulos, V., Bahi-Buisson, N., Wiame, E., Hubert, L., Boddaert, N., Kaminska, A., Habarou, F., Desguerre, I., Van Schaftingen, E., Ottolenghi, C., de Lonlay, P.
|
|
<strong>Two new cases of serine deficiency disorders treated with l-serine.</strong>
|
|
Europ. J. Paediat. Neurol. 20: 53-60, 2016.
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[PubMed: 26610677]
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[Full Text: https://doi.org/10.1016/j.ejpn.2015.10.007]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Debs, S., Ferreira, C. R., Groden, C., Kim, H. J., King, K. A., King, M. C., Lehky, T., Cowen, E. W., Brown, L. H., Merideth, M., Owen, C. M., Macnamara, E., Toro, C., Gahl, W. A., Soldatos, A.
|
|
<strong>Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.</strong>
|
|
Am. J. Med. Genet. 185A: 2102-2107, 2021.
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[PubMed: 34089226]
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[Full Text: https://doi.org/10.1002/ajmg.a.62245]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Glinton, K. E., Benke, P. J., Lines, M. A., Geraghty, M. T., Chakraborty, P., Al-Dirbashi, O. Y., Jiang, Y., Kennedy, A. D., Grotewiel, M. S., Sutton, V. R., Elsea, S. H., El-Hattab, A. W.
|
|
<strong>Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.</strong>
|
|
Molec. Genet. Metab. 123: 309-316, 2018.
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[PubMed: 29269105]
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[Full Text: https://doi.org/10.1016/j.ymgme.2017.12.009]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hart, C. E., Race, V., Achouri, Y., Wiame, E., Sharrard, M., Olpin, S. E., Watkinson, J., Bonham, J. R., Jaeken, J., Matthijs, G., Van Schaftingen, E.
|
|
<strong>Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.</strong>
|
|
Am. J. Hum. Genet. 80: 931-937, 2007.
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[PubMed: 17436247]
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[Full Text: https://doi.org/10.1086/517888]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Misrahi, M., Atger, M., Milgrom, E.
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<strong>A novel progesterone-induced messenger RNA in rabbit and human endometria: cloning and sequence analysis of the complementary cDNA.</strong>
|
|
Biochemistry 26: 3975-3982, 1987.
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[PubMed: 3651428]
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[Full Text: https://doi.org/10.1021/bi00387a035]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 04/08/2024<br>Hilary J. Vernon - updated : 05/27/2020<br>Cassandra L. Kniffin - updated : 9/30/2014<br>Victor A. McKusick - updated : 5/1/2007
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</span>
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</div>
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</div>
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</div>
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<br />
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 4/17/2007
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</span>
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carol : 05/14/2024<br>carol : 04/08/2024<br>carol : 05/27/2020<br>mcolton : 07/31/2015<br>carol : 10/2/2014<br>mcolton : 10/1/2014<br>ckniffin : 9/30/2014<br>alopez : 5/2/2007<br>terry : 5/1/2007<br>mgross : 4/17/2007
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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