Table 3.

Selected PYGM Allelic Variants

Variant
Classification
DNA Nucleotide ChangeProtein Amino Acid Change 1
(Alias 2)
Reference Sequences
Benignc.564C>Ap.Asn188LysNM_005609​.2
NP_005600​.1
c.1240C>Gp.Arg414Gly
c.1289C>Tp.Ser430Leu
c.1365C>Tp.=
c.1494C>Tp.=
Pathogenicc.148C>Tp.Arg50Ter
(Arg49*)
c.255C>Ap.Tyr85Ter
(Tyr84*)
c.613G>Ap.Gly205Ser
(Gly204Ser)
c.645G>A p.=
(Lys215Lys)
c.1628A>Cp.Lys543Thr
(Lys542Thr)
c.1827G>Ap.=
(Lys608Lys)
c.2128_2130delTTCp.Phe710del
(708/709del)
c.2392T>Cp.Trp798Arg
(Trp797Arg)

Note on variant classification: Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

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

1. p.= indicates that no amino acid change is expected.

2. Variant designation that does not conform to current naming conventions. For PYGM, the alias for a pathogenic protein amino acid change was in the past one residue less, as it follows a convention of designating the second amino acid (Ser) as residue number one, rather than the standard of using the initiating Met residue as number one.

From: Glycogen Storage Disease Type V

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