No paralogue variants have been mapped to residue 2140 for RYR1.
RYR1 | FVQSPELVRAMFSLLHRQYDGLGELLRALP>R<AYTISPSSVEDTMSLLECLGQIRSLLIVQM | 2170 |
RYR2 | VIEDPELVRAMFVLLHRQYDGIGGLVRALP>K<TYTINGVSVEDTINLLASLGQIRSLLSVRM | 2134 |
RYR3 | QIQDSELVRMMFNLLRRQYDSIGELLQALR>K<TYTISHTSVSDTINLLAALGQIRSLLSVRM | 2032 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2140W | c.6418C>T | Putative Benign | SIFT: Polyphen: | ||
p.R2140Q | c.6419G>A | Putative Benign | SIFT: Polyphen: |