No paralogue variants have been mapped to residue 4251 for RYR2.
RYR2 | ---ERPEEQGPRMAFFSILTVRSALFALRY>N<ILTLMRMLSLKSLKKQMKKVKKMTVKDMVT | 4281 |
RYR1 | AGAEGAEEGAAGLEGTAATAAAGATARVVA>A<AGRALRGLSYRSLRRRVRRLRRLTAREAAT | 4330 |
RYR3 | YVLEIAGEEEEDGSLEPASAFAMACASVKR>N<VTDFLKRATLKNLRKQYRNVKKMTAKELVK | 4182 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N4251D | c.12751A>G | Putative Benign | SIFT: Polyphen: | ||
p.N4251S | c.12752A>G | Putative Benign | SIFT: Polyphen: |