No paralogue variants have been mapped to residue 108 for RYR1.
RYR1 | -V---E-------SSQGGGHRTLLYGHAIL>L<RHAHSRMYLSCLTTSRSMTDKLAFDVGLQE | 138 |
RYR2 | GQVDVEKWKFMMKTAQGGGHRTLLYGHAIL>L<RHSYSGMYLCCLSTSRSSTDKLAFDVGLQE | 151 |
RYR3 | GE---G-------AAQGGGHRTLLYGHAVL>L<RHSFSGMYLTCLTTSRSQTDKLAFDVGLRE | 141 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L108F | c.322C>T | Putative Benign | SIFT: Polyphen: |