No paralogue variants have been mapped to residue 3581 for RYR2.
RYR2 | LDIANVLFHLEQKSKRVGRRHYCL-VEHPQ>R<SKKAVWHKLLSKQRKRAVVACFRMAPLYNL | 3611 |
RYR1 | -------------QEVSAVLYYLDQTEHPY>K<SKKAVWHKLLSKQRRRAVVACFRMTPLYNL | 3644 |
RYR3 | -------------QRISAAVFHLEQVEQPL>R<SKKAVWHKLLSKQRKRAVVACFRMAPLYNL | 3499 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3581K | c.10742G>A | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases. Eur J Hum Genet. 2016 24(6):817-22. doi: 10.1038/ejhg.2015.198. 26350513 |