No paralogue variants have been mapped to residue 2075 for RYR2.
RYR2 | EKPVESDSKKSSTLQQLISETMVRWAQESV>I<EDPELVRAMFVLLHRQYDGIGGLVRALPKT | 2105 |
RYR1 | EEERSAEESKPRSLQELVSHMVVRWAQEDF>V<QSPELVRAMFSLLHRQYDGLGELLRALPRA | 2141 |
RYR3 | EQPTEEEERCPTTLKELISQTMICWAQEDQ>I<QDSELVRMMFNLLRRQYDSIGELLQALRKT | 2003 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I2075T | c.6224T>C | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | Ryanodine Receptor Mutations Presenting as Idiopathic Ventricular Fibrillation: A Report on Two Novel Familial Compound Mutations, c.6224T>C and c.13781A>G, With the Clinical Presentation of Idiopathic Ventricular Fibrillation. Pediatr Cardiol. 2014 24950728 |