No paralogue variants have been mapped to residue 2074 for RYR2.
RYR2 | -EKPVESDSKKSSTLQQLISETMVRWAQES>V<IEDPELVRAMFVLLHRQYDGIGGLVRALPK | 2104 |
RYR1 | PEEERSAEESKPRSLQELVSHMVVRWAQED>F<VQSPELVRAMFSLLHRQYDGLGELLRALPR | 2140 |
RYR3 | -EQPTEEEERCPTTLKELISQTMICWAQED>Q<IQDSELVRMMFNLLRRQYDSIGELLQALRK | 2002 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V2074F | c.6220G>T | Putative Benign | SIFT: Polyphen: |