No paralogue variants have been mapped to residue 1286 for RYR1.
RYR1 | VSRVDGTVDTPPCLRLTHRTWGSQNSLVEM>L<FLRLSLPVQFHQHFRCTAGATPLAPPGLQP | 1316 |
RYR2 | VTRIDGTIDSSPCLKVTQKSFGSQNSNTDI>M<FYRLSMPIECAEVFSKTV-AGGLPGAGLFG | 1329 |
RYR3 | VMRIDGTMDSPPCLKVTHKTFGTQNSNADM>I<YCRLSMPVECHSSFSH-------------- | 1302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1286V | c.3856C>G | Putative Benign | SIFT: Polyphen: |