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NM_005609.4(PYGM):c.1827G>A (p.Lys609=) AND Glycogen storage disease, type V

Significance: Likely pathogenic
ClinVar: RCV000002403

Variant: NM_005609.4(PYGM):c.1827G>A (p.Lys609=)

Type: Variant
Allele: NM_005609.4(PYGM):c.1827G>A (p.Lys609=) 17352
Gene:
Type: single nucleotide variant
Location: Chr11: 64519069 - assembly GRCh37
Chr11: 64751597 - assembly GRCh38
References: dbSNP: 119103259
OMIM: 608455.0016

Condition

Disease: Glycogen storage disease, type V

Citation

    In a patient with McArdle disease (GSD5; 232600), Fernandez-Cadenas et al. (2003) identified compound heterozygosity for mutations in the PYGM gene. One of the mutations, 1827G-A, was a silent mutation (lys608 to lys; K608K). cDNA studies showed that the change resulted in a severe mosaic alteration in mRNA splicing with multiple aberrant transcripts, including exon skipping, activation of cryptic splice sites, and exon-intron reorganization. The same mutation was identified in a second patient, supporting the idea that the K608K mutation has a primary pathogenic role. The second mutation was a 1722T-G transversion, resulting in a tyr573-to-ter (Y573X) (608455.0017) substitution.
PMID:14638972