No paralogue variants have been mapped to residue 1295 for RYR1.
RYR1 | TPPCLRLTHRTWGSQNSLVEMLFLRLSLPV>Q<FHQHFRCTAGATPLAPPGLQPPAEDEARAA | 1325 |
RYR2 | SSPCLKVTQKSFGSQNSNTDIMFYRLSMPI>E<CAEVFSKTV-AGGLPGAGLFGPK-NDLEDY | 1337 |
RYR3 | SPPCLKVTHKTFGTQNSNADMIYCRLSMPV>E<CHSSFSH----------------------- | 1302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q1295K | c.3883C>A | Putative Benign | SIFT: Polyphen: |