Paralogue Annotation for RYR2 residue 3510

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3510
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3510

No paralogue variants have been mapped to residue 3510 for RYR2.



RYR2ICAPGDQELIALAKNRFSLKDTEDEVRDII>R<SNIHLQGKLE-DPAIRWQMALYKDLPNRTD3539
RYR1MCAPTDQDLITLAKTRYALKDTDEEVREFL>H<NNLHLQGKVEGSPSLRWQMALYRGVPGREE3584
RYR3MCTPGDQELISLAKSRYSHRDTDEEVREHL>R<NNLHLQEKSD-DPAVKWQLNLYKDVLK-SE3439
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R3510Sc.10528C>A Putative BenignSIFT: deleterious
Polyphen: benign
p.R3510Cc.10528C>T Putative BenignSIFT: deleterious
Polyphen: possibly damaging
p.R3510Hc.10529G>A Putative BenignSIFT: tolerated
Polyphen: possibly damaging