No paralogue variants have been mapped to residue 1289 for RYR1.
RYR1 | VDGTVDTPPCLRLTHRTWGSQNSLVEMLFL>R<LSLPVQFHQHFRCTAGATPLAPPGLQPPAE | 1319 |
RYR2 | IDGTIDSSPCLKVTQKSFGSQNSNTDIMFY>R<LSMPIECAEVFSKTV-AGGLPGAGLFGPK- | 1331 |
RYR3 | IDGTMDSPPCLKVTHKTFGTQNSNADMIYC>R<LSMPVECHSSFSH----------------- | 1302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1289W | c.3865C>T | Putative Benign | rs377185497 | SIFT: deleterious Polyphen: probably damaging |