No paralogue variants have been mapped to residue 3912 for RYR1.
RYR1 | DLFRFLQLLCEGHNNDFQNYLRTQTGNTTT>I<NIIICTVDYLLRLQESISDFYWYYSGKDVI | 3942 |
RYR2 | DLFRFLQLLCEGHNSDFQNYLRTQTGNNTT>V<NIIISTVDYLLRVQESISDFYWYYSGKDVI | 3898 |
RYR3 | DLFRFLQLLCEGHNSDFQNFLRTQMGNTTT>V<NVIISTVDYLLRLQESISDFYWYYSGKDII | 3794 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I3912N | c.11735T>A | Putative Benign | rs150588606 | SIFT: Polyphen: possibly damaging |