No paralogue variants have been mapped to residue 183 for RYR1.
RYR1 | SKQRSEGEKVRVGDDIILVSVSSERYLHLS>T<ASGELQVDASFMQTLWNMNPICSR--CEEG | 211 |
RYR2 | SKQRSEGEKVRVGDDLILVSVSSERYLHLS>Y<GNGSLHVDAAFQQTLWSVAPISSGSEAAQG | 226 |
RYR3 | SKQRSEGEKVRIGDDLILVSVSSERYLHLS>V<SNGNIQVDASFMQTLWNVHPTCSGSSIEEG | 216 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T183I | c.548C>T | Putative Benign | rs150038701 | SIFT: Polyphen: possibly damaging |