No paralogue variants have been mapped to residue 148 for RYR1.
RYR1 | SCLTTSRSMTDKLAFDVGLQEDATGEACWW>T<MHPASKQRSEGEKVRVGDDIILVSVSSERY | 178 |
RYR2 | CCLSTSRSSTDKLAFDVGLQEDTTGEACWW>T<IHPASKQRSEGEKVRVGDDLILVSVSSERY | 191 |
RYR3 | TCLTTSRSQTDKLAFDVGLREHATGEACWW>T<IHPASKQRSEGEKVRIGDDLILVSVSSERY | 181 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T148I | c.443C>T | Putative Benign | rs151325948 | SIFT: Polyphen: probably damaging |