No paralogue variants have been mapped to residue 1049 for RYR1.
RYR1 | RLVPYRLLDEATKRSNRDSLCQAVRTLLGY>G<YNIEPPDQEP-SQVEN-QSRCDRVRIFRAE | 1077 |
RYR2 | RLVPYTLLDDRTKKSNKDSLREAVRTLLGY>G<YNLEAPDQDHAARAEVCSGTGERFRIFRAE | 1091 |
RYR3 | RLVPYALLDERTKKSNRDSLREAVRTFVGY>G<YNIEPSDQEL-ADSAVEKVSIDKIRFFRVE | 1077 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1049S | c.3145G>A | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935 |