No paralogue variants have been mapped to residue 1503 for RYR2.
RYR2 | KVHESIKRSNCYMVCAGESMSPGQ-G-RNN>N<GLEIGCVVDAASGLLTFIANGKELSTYYQV | 1533 |
RYR1 | NVHSSLKCSNCYMVWGGDFVSPGQQGRISH>T<DLVIGCLVDLATGLMTFTANGKESNTFFQV | 1541 |
RYR3 | RVHESVKRSNCYMVWGGDIVASSQRSNRSN>V<DLEIGCLVDLAMGMLSFSANGKELGTCYQV | 1437 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Asn1503Asp | c.4507A>G | Unknown | SIFT: Polyphen: |