No paralogue variants have been mapped to residue 2213 for RYR2.
RYR2 | ESKEITFPKMVANCCRFLCYFCRISRQNQK>A<MFDHLSYLLENSSVGLASPAMRGSTPLDVA | 2243 |
RYR1 | ESKEIRFPKMVTSCCRFLCYFCRISRQNQR>S<MFDHLSYLLENSGIG--L-GMQGSTPLDVA | 2276 |
RYR3 | EKSQIAFPKMVASCCRFLCYFCRISRQNQK>A<MFEHLSYLLENSSVGLASPSMRGSTPLDVA | 2140 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2213S | c.6637G>T | Cardiomyopathy | ARVD/C | SIFT: Polyphen: | |
Reports | Cardiomyopathy | ARVD/C | Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening. Heart Rhythm. 2014 11(11):1999-2009. doi: 10.1016/j.hrthm.2014.07.020 25041964 |