No paralogue variants have been mapped to residue 1357 for RYR2.
RYR2 | FGPK-NDLEDYDADSDFEVLMKTAHGHLVP>D<RVDKDKEATKPEFNNHK------------- | 1374 |
RYR1 | QPPAEDEARAAEPDPDYENLRRSAGGWSEA>E<NGKEGTAKEGAPGGTPQAGGEAQPARAENE | 1375 |
RYR3 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1357H | c.4069G>C | Putative Benign | rs193922626 | SIFT: deleterious Polyphen: benign | |
Reports | Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | |||
p.D1357N | c.4069G>A | Putative Benign | SIFT: tolerated Polyphen: benign |