Paralogue Annotation for RYR2 residue 4741

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4741
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4741

No paralogue variants have been mapped to residue 4741 for RYR2.



RYR2GVVFTDNSFLYLAWYMTMSVLGHYNNFFFA>A<HLLDIAMGFKTLRTILSSVTHNGKQLVLTV4771
RYR1GVIFTDNSFLYLGWYMVMSLLGHYNNFFFA>A<HLLDIAMGVKTLRTILSSVTHNGKQLVMTV4842
RYR3GVVFTDNSFLYLAWYTTMSVLGHYNNFFFA>A<HLLDIAMGFKTLRTILSSVTHNGKQLVLTV4674
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A4741Vc.14222C>T Inherited ArrhythmiaCPVTSIFT:
Polyphen:
ReportsInherited ArrhythmiaCPVT Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. PLoS One. 2015 10(6):e0131517. doi: 10.1371/journal.pone.0131517. 26114861