Table 10. [AGXT Pathogenic Variants Referenced in This GeneReview]. - GeneReviews®

Reference Sequences	DNA Nucleotide Change	Predicted Protein Change	Comment [Reference]
NM_000030.3 NP_000021.1	c.32C>T	p.Pro11Leu	Acts synergistically, thus exacerbating the deleterious effects of certain pathogenic variants in cis. Is not pathogenic alone.
c.121G>A	p.Gly41Arg	Common pathogenic variant that may be vitamin B₆ responsive [Danpure et al 1993]
c.454T>A	p.Phe152Ile	Pathogenic variant assoc w/vitamin B₆ responsiveness [Demoulin et al 2022]
c.508G>A	p.Gly170Arg	Common pathogenic variant assoc w/vitamin B₆ responsiveness [Demoulin et al 2022]
c.731T>C	p.Ile244Thr	Common variant in the Canary Islands w/homozygotes showing kidney survival like that of homozygotes for p.Gly170Arg [Metry et al 2023]

Reference Sequences

DNA Nucleotide Change

Predicted Protein Change

Comment [Reference]

c.32C>T

p.Pro11Leu

Acts synergistically, thus exacerbating the deleterious effects of certain pathogenic variants in cis. Is not pathogenic alone.

c.121G>A

p.Gly41Arg

Common pathogenic variant that may be vitamin B₆ responsive [Danpure et al 1993]

c.454T>A

p.Phe152Ile

Pathogenic variant assoc w/vitamin B₆ responsiveness [Demoulin et al 2022]

c.508G>A

p.Gly170Arg

Common pathogenic variant assoc w/vitamin B₆ responsiveness [Demoulin et al 2022]

c.731T>C

p.Ile244Thr

Common variant in the Canary Islands w/homozygotes showing kidney survival like that of homozygotes for p.Gly170Arg [Metry et al 2023]

From: Primary Hyperoxaluria Type 1

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