No paralogue variants have been mapped to residue 2095 for RYR2.
RYR2 | TMVRWAQESVIEDPELVRAMFVLLHRQYDG>I<GGLVRALPKTYTINGVSVEDTINLLASLGQ | 2125 |
RYR1 | MVVRWAQEDFVQSPELVRAMFSLLHRQYDG>L<GELLRALPRAYTISPSSVEDTMSLLECLGQ | 2161 |
RYR3 | TMICWAQEDQIQDSELVRMMFNLLRRQYDS>I<GELLQALRKTYTISHTSVSDTINLLAALGQ | 2023 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I2095T | c.6284T>C | Putative Benign | rs142498105 | SIFT: tolerated Polyphen: benign |