PYGM R49X - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!



(PYGM Arg49Stop)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

    Web search results (56 hits -- see all)
  • Glycogen Storage Disease Type V
    R49X is the most common mutation among individuals of European and US descent. ... metabolism, testing for the more common PYGM mutations (R49X and G204S) is ...
  • A New Rare Mutation (691delCC/insAAA) in Exon 17 of the PYGM ...
    screened for 3 common mutations in the PYGM gene (R49X, ... coding sequence of the entire PYGM gene was sequenced. The carrier status of his relatives was also studied. ...
  • Arch Neurol -- A New Rare Mutation (691delCC/insAAA) in Exon ...
    Patients A Spanish patient with McArdle disease was screened for 3 common mutations in the PYGM gene (R49X, W797R, and G204S), as previously described. ...
  • McArdle's Disease : The Unsolved Mystery of the Reappearing ...
    ... could be detected, we directly sequenced the entire PYGM cDNA. ... mutated in patients 1, 2 (R49X), and 3 (L396P), R49X/G204S in patient 4, and R49X/R49X in patient 5 (Table 1) ...
  • McArdle's Disease
    ... is the nonsense mutation at codon 49 (R49X), accounting for up to 60% of the ... at least one allele of the PYGM gene, the muscle-specific isoform is ...
  • Two Homozygous Mutations (R193W and 794/795 delAA) in the ...
    Genetic defects of the myophosphorylase gene (PYGM) cause a typical ... Screening by PCR-RFLP excluded the presence of the mutations R49X, G204S, and K542T in the PYGM gene. ...
  • GSDV - McArdle Disease
    ... description of the genetics and clinical features of this glycogen storage disease (GSD5) that results from defects in the muscle phosphorylase (PYGM) gene. ...
  • Journal of Medical Genetics
    Although the order PYGM (AT)-PYGM (CA) was used in construction of ... substitution at codon 49 in exon 1 (R49X) or the T to C substitution at ...
  • WikiGenes - PPL - periplakin
    The world's first wiki where authorship really matters. Due credit and reputation for ... with McArdle's disease, R49X in the muscle PPL gene (PYGM) [1]. We conclude that ...
  • IngentaConnect Molecular Analysis of Myophosphorylase ...
    Molecular Analysis of Myophosphorylase Deficiency in Dutch Patients with ... crowded map of mutations within the PYGM gene responsible for McArdle's disease. ...

Other in silico analyses

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

Log in