No paralogue variants have been mapped to residue 4143 for RYR1.
RYR1 | CSEADENEMINCEEFANRFQEPARDIGFNV>A<VLLTNLSEHVPHDPRLHNFLELAESILEYF | 4173 |
RYR2 | CAETDENETLDYEEFVKRFHEPAKDIGFNV>A<VLLTNLSEHMPNDTRLQTFLELAESVLNYF | 4129 |
RYR3 | CAEADENDMFNYVDFVDRFHEPAKDIGFNV>A<VLLTNLSEHMPNDSRLKCLLDPAESVLNYF | 4025 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4143V | c.12428C>T | Putative Benign | SIFT: Polyphen: |