Paralogue Annotation for RYR2 residue 4307

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4307
Reference Amino Acid: R - Arginine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4307

No paralogue variants have been mapped to residue 4307 for RYR2.



RYR2KDMVTAFFSSYWSIFMTLLHFVASVFRGFF>R<IICSLLLGGSLVEGAKKIKVAELLANMPDP4337
RYR1REAATAVAALLWAAVTRAGAAGAGAAAGAL>G<LLWGSLFGGGLVEGAKKVTVTELLAGMPDP4386
RYR3KELVKVLFSFFWMLFVGLFQLLFTILGGIF>Q<ILWSTVFGGGLVEGAKNIRVTKILGDMPDP4238
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R4307Cc.12919C>T BenignSIFT: tolerated
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
p.R4307Hc.12920G>A Putative BenignSIFT:
Polyphen: