Paralogue Annotation for RYR2 residue 4688

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4688
Reference Amino Acid: P - Proline
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4688

No paralogue variants have been mapped to residue 4688 for RYR2.



RYR2GEFYGRDRISELLGMDKAALDFSDAREKKK>P<KKDSSLSAVLNSIDVKYQMWKLGVVFTDNS4718
RYR1GDIYGRERIAELLGMDLATLEITAHNER-K>P<NPPPGLLTWLMSIDVKYQIWKFGVIFTDNS4789
RYR3GDLYGAERIAELLGLDKNALDFSPVEET-K>A<-EAASLVSWLSSIDMKYHIWKLGVVFTDNS4621
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P4688Ac.14062C>G UnknownSIFT:
Polyphen:
ReportsUnknown 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