No paralogue variants have been mapped to residue 370 for RYR1.
RYR1 | YGESLCFVQHVASGLWLTYAAPDPKALRLG>V<LKKKAMLHQEGHMDDALSLTRCQQEESQAA | 400 |
RYR2 | YGDSVCYIQHVDTGLWLTYQSVDVKSVRMG>S<IQRKAIMHHEGHMDDGISLSRSQHEESRTA | 416 |
RYR3 | YGDSVCFVQHIASGLWVTYKAQDAKTSRLG>P<LKRKVILHQEGHMDDGLTLQRCQREESQAA | 408 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V370M | c.1108G>A | Putative Benign | SIFT: tolerated Polyphen: benign | ||
p.V370L | c.1108G>C | Putative Benign | SIFT: Polyphen: |