No paralogue variants have been mapped to residue 3809 for RYR2.
RYR2 | DYLKEKKDVGFFQSLAGLMQSCSVLDLNAF>E<RQNKAEGLGMVTEEGS------GEKVLQDD | 3833 |
RYR1 | DYLKDKKEVGFFQSIQALMQTCSVLDLNAF>E<RQNKAEGLGMVNEDGTVINRQNGEKVMADD | 3877 |
RYR3 | DYLKEKKDAGFFQSLSGLMQSCSVLDLNAF>E<RQNKAEGLGMVTEEGTLIVRERGEKVLQND | 3729 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3809G | c.11426A>G | Cardiomyopathy | HCM | SIFT: Polyphen: | |
Reports | Cardiomyopathy | HCM | Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing. Sci Rep. 2015 5:16609. doi: 10.1038/srep16609. 26573135 |