No paralogue variants have been mapped to residue 1501 for RYR2.
RYR2 | KGKVHESIKRSNCYMVCAGESMSPGQ-G-R>N<NNGLEIGCVVDAASGLLTFIANGKELSTYY | 1531 |
RYR1 | QGNVHSSLKCSNCYMVWGGDFVSPGQQGRI>S<HTDLVIGCLVDLATGLMTFTANGKESNTFF | 1539 |
RYR3 | RGRVHESVKRSNCYMVWGGDIVASSQRSNR>S<NVDLEIGCLVDLAMGMLSFSANGKELGTCY | 1435 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Asn1501Lys | c.4503C>A | Unknown | SIFT: Polyphen: |