Paralogue Annotation for RYR2 residue 507

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 507
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 507

No paralogue variants have been mapped to residue 507 for RYR2.



RYR2NRLRALKNRQNLFQEEGMINLVLECIDRLH>V<YSSAAHFADVAGREAGESWKSILNSLYELL537
RYR1SKLRSLRNRQSLFQEEGMLSMVLNCIDRLN>V<YTTAAHFAEFAGEEAAESWKEIVNLLYELL525
RYR3NKLRSLKNRQNLFKEEGMLALVLNCIDRLN>V<YNSVAHFAGIAREESGMAWKEILNLLYKLL524
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V507Ic.1519G>A Benignrs16835270SIFT: tolerated
Polyphen: possibly damaging
ReportsBenign 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