No paralogue variants have been mapped to residue 1285 for RYR1.
RYR1 | EVSRVDGTVDTPPCLRLTHRTWGSQNSLVE>M<LFLRLSLPVQFHQHFRCTAGATPLAPPGLQ | 1315 |
RYR2 | EVTRIDGTIDSSPCLKVTQKSFGSQNSNTD>I<MFYRLSMPIECAEVFSKTV-AGGLPGAGLF | 1328 |
RYR3 | EVMRIDGTMDSPPCLKVTHKTFGTQNSNAD>M<IYCRLSMPVECHSSFSH------------- | 1302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M1285V | c.3853A>G | Putative Benign | SIFT: Polyphen: | ||
p.M1285R | c.3854T>G | Putative Benign | SIFT: Polyphen: |