No paralogue variants have been mapped to residue 4643 for RYR1.
RYR1 | GLGAGEEAEGDEDENMVYYFLEESTGYMEP>A<LRCLSLLHTLVAFLCIIGYNCLKVPLVIFK | 4673 |
RYR2 | SLDS-----SSHRIIAVHYVLEESSGYMEP>T<LRILAILHTVISFFCIIGYYCLKVPLVIFK | 4601 |
RYR3 | SFND-----EEEEEAMVFFVLQESTGYMAP>T<LRALAIIHTIISLVCVVGYYCLKVPLVVFK | 4506 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4643T | c.13927G>A | Putative Benign | rs200286252 | SIFT: Polyphen: | |
p.A4643P | c.13927G>C | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. Ann Neurol. 2016 80(1):101-11. doi: 10.1002/ana.24687. 27159402 |