Paralogue Annotation for RYR2 residue 4751

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4751
Reference Amino Acid: K - Lysine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4751

No paralogue variants have been mapped to residue 4751 for RYR2.



RYR2YLAWYMTMSVLGHYNNFFFAAHLLDIAMGF>K<TLRTILSSVTHNGKQLVLTVGLLAVVVYLY4781
RYR1YLGWYMVMSLLGHYNNFFFAAHLLDIAMGV>K<TLRTILSSVTHNGKQLVMTVGLLAVVVYLY4852
RYR3YLAWYTTMSVLGHYNNFFFAAHLLDIAMGF>K<TLRTILSSVTHNGKQLVLTVGLLAVVVYLY4684
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K4751Qc.14251A>C Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086