Paralogue Annotation for RYR2 residue 4315

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4315
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4315

No paralogue variants have been mapped to residue 4315 for RYR2.



RYR2SSYWSIFMTLLHFVASVFRGFFRIICSLLL>G<GSLVEGAKKIKVAELLANMPDPTQDEVRGD4345
RYR1ALLWAAVTRAGAAGAGAAAGALGLLWGSLF>G<GGLVEGAKKVTVTELLAGMPDPTSDEVHGE4394
RYR3SFFWMLFVGLFQLLFTILGGIFQILWSTVF>G<GGLVEGAKNIRVTKILGDMPDPTQFGIHDD4246
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G4315Ec.12944G>A Putative BenignSIFT: deleterious
Polyphen: probably damaging
ReportsPutative Benign The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 54(22):2065-74. 19926015