No paralogue variants have been mapped to residue 140 for RYR1.
RYR1 | HAHSRMYLSCLTTSRSMTDKLAFDVGLQED>A<TGEACWWTMHPASKQRSEGEKVRVGDDIIL | 170 |
RYR2 | HSYSGMYLCCLSTSRSSTDKLAFDVGLQED>T<TGEACWWTIHPASKQRSEGEKVRVGDDLIL | 183 |
RYR3 | HSFSGMYLTCLTTSRSQTDKLAFDVGLREH>A<TGEACWWTIHPASKQRSEGEKVRIGDDLIL | 173 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A140T | c.418G>A | Putative Benign | rs142474192 | SIFT: Polyphen: possibly damaging | |
p.A140S | c.418G>T | Putative Benign | SIFT: Polyphen: |