No paralogue variants have been mapped to residue 185 for RYR1.
RYR1 | QRSEGEKVRVGDDIILVSVSSERYLHLSTA>S<GELQVDASFMQTLWNMNPICSR--CEEGFV | 213 |
RYR2 | QRSEGEKVRVGDDLILVSVSSERYLHLSYG>N<GSLHVDAAFQQTLWSVAPISSGSEAAQGYL | 228 |
RYR3 | QRSEGEKVRIGDDLILVSVSSERYLHLSVS>N<GNIQVDASFMQTLWNVHPTCSGSSIEEGYL | 218 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S185N | c.554G>A | Benign | rs180699273 | SIFT: Polyphen: probably damaging |