Table 3.

Notable Recurrent PYGM Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted
Protein Change		Recurrent Variants
NM_005609​.2
NP_005600​.1 		c.148C>Tp.Arg50TerSee footnote 1.
c.255C>Ap.Tyr85TerIndividuals of Central European descent
c.613G>Ap.Gly205Ser10% of alleles in US & 9% in Spain; never in Japanese 1, 2
c.2128_2130delTTCp.Phe710delThe most common PYGM variant in Japan 1
c.2392T>Cp.Trp798ArgFound in 10% of Spanish individuals w/GSDV 2

Variants listed in the table have been provided by the authors. 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.

See the review by Nogales-Gadea et al [2015] for additional details.

1.

The variant p.Arg50Ter (previously p.Arg49Ter) is the most common pathogenic variant in individuals of European and US descent. Frequency (among all variants) of p.Arg50Ter observed by population: 81% (English), 63% (North American), 56% (German), 56% (French), 55% (Spanish); p.Arg50Ter has never been found in individuals of Japanese descent [Nogales-Gadea et al 2015 and references therein].

2.

From: Glycogen Storage Disease Type V

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.