No paralogue variants have been mapped to residue 164 for RYR1.
RYR1 | VGLQEDATGEACWWTMHPASKQRSEGEKVR>V<GDDIILVSVSSERYLHLSTASGELQVDASF | 194 |
RYR2 | VGLQEDTTGEACWWTIHPASKQRSEGEKVR>V<GDDLILVSVSSERYLHLSYGNGSLHVDAAF | 207 |
RYR3 | VGLREHATGEACWWTIHPASKQRSEGEKVR>I<GDDLILVSVSSERYLHLSVSNGNIQVDASF | 197 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V164I | c.490G>A | Putative Benign | SIFT: Polyphen: |