No paralogue variants have been mapped to residue 4942 for RYR1.
RYR1 | LYRVVFDITFFFFVIVILLAIIQGLIIDAF>G<ELRDQQEQVKEDMETKCFICGIGSDYFDTT | 4972 |
RYR2 | IYRIIFDITFFFFVIVILLAIIQGLIIDAF>G<ELRDQQEQVKEDMETKCFICGIGNDYFDTV | 4901 |
RYR3 | MYRIVFDITFFFFVIVILLAIIQGLIIDAF>G<ELRDQQEQVREDMETKCFICGIGNDYFDTT | 4804 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G4942V | c.14825G>T | Other Myopathy | rs193922896 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region. Cell Calcium. 2002 32(3):143-51. 12208234 |