No paralogue variants have been mapped to residue 4150 for RYR1.
RYR1 | EMINCEEFANRFQEPARDIGFNVAVLLTNL>S<EHVPHDPRLHNFLELAESILEYFRPYLGRI | 4180 |
RYR2 | ETLDYEEFVKRFHEPAKDIGFNVAVLLTNL>S<EHMPNDTRLQTFLELAESVLNYFQPFLGRI | 4136 |
RYR3 | DMFNYVDFVDRFHEPAKDIGFNVAVLLTNL>S<EHMPNDSRLKCLLDPAESVLNYFEPYLGRI | 4032 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S4150W | c.12449C>G | Putative Benign | rs143843083 | SIFT: Polyphen: possibly damaging |