No paralogue variants have been mapped to residue 363 for RYR1.
RYR1 | MGPPEIKYGESLCFVQHVASGLWLTYAAPD>P<KALRLGVLKKKAMLHQEGHMDDALSLTRCQ | 393 |
RYR2 | MGTSEIKYGDSVCYIQHVDTGLWLTYQSVD>V<KSVRMGSIQRKAIMHHEGHMDDGISLSRSQ | 409 |
RYR3 | MGVPEIKYGDSVCFVQHIASGLWVTYKAQD>A<KTSRLGPLKRKVILHQEGHMDDGLTLQRCQ | 401 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P363S | c.1087C>T | Putative Benign | rs367995800 | SIFT: tolerated Polyphen: benign |