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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.

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Table 4.

Notable FKTN Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_001079802​.1
NP_001073270​.1 		c.1167_1168insAp.Phe390IlefsTer14Founder variant in Ashkenazi Jewish [Chang et al 2009]
NM_006731​.2
NP_006722​.2 		c.647+2084G>T 1p.Arg216SerfsTer10Founder variant in Korea [Lim et al 2010]; 2nd most common variant in Japan [Kobayashi et al 2017]
NM_006731​.2 c.*4392_*4393insAB185332.1 2, 3Founder variant in Japan [Kobayashi et al 1998]
NM_001079802​.1
NP_001073270​.1 		c.139C>Tp.Arg47Ter3rd most common variant in Japan [Kobayashi et al 2017]

Variants listed in the table have been provided by the author. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Deep intronic variant of intron that activates a pseudoexon

2.

A 3-kb retrotransposon insertion of tandemly repeated sequences in the 3' untranslated region [Kato et al 2004]. Asterisk denotes a variant in the 3' UTR; the number indicates the nucleotide position beyond the stop codon. AB185332​.1 is the accession number of the sequence of the inserted retrotransposon.

3.

Also known as NM_001079802​.1:c.*4392_4393ins3062

From: Fukuyama Congenital Muscular Dystrophy

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