No paralogue variants have been mapped to residue 4688 for RYR2.
RYR2 | GEFYGRDRISELLGMDKAALDFSDAREKKK>P<KKDSSLSAVLNSIDVKYQMWKLGVVFTDNS | 4718 |
RYR1 | GDIYGRERIAELLGMDLATLEITAHNER-K>P<NPPPGLLTWLMSIDVKYQIWKFGVIFTDNS | 4789 |
RYR3 | GDLYGAERIAELLGLDKNALDFSPVEET-K>A<-EAASLVSWLSSIDMKYHIWKLGVVFTDNS | 4621 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P4688A | c.14062C>G | Unknown | SIFT: Polyphen: | ||
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 |