No paralogue variants have been mapped to residue 117 for RYR1.
RYR1 | ----SSQGGGHRTLLYGHAILLRHAHSRMY>L<SCLTTSRSMTDKLAFDVGLQEDATGEACWW | 147 |
RYR2 | FMMKTAQGGGHRTLLYGHAILLRHSYSGMY>L<CCLSTSRSSTDKLAFDVGLQEDTTGEACWW | 160 |
RYR3 | ----AAQGGGHRTLLYGHAVLLRHSFSGMY>L<TCLTTSRSQTDKLAFDVGLREHATGEACWW | 150 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L117V | c.349C>G | Putative Benign | SIFT: Polyphen: |