Paralogue Annotation for RYR2 residue 3347

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3347
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3347

No paralogue variants have been mapped to residue 3347 for RYR2.



RYR2THFLPLMEKLKKKAATVVSEEDHLKAEARG>D<MSEAELLILDEFTTLARDLYAFYPLLIRFV3377
RYR1SHFIPTIGRLRKRAGKVVSEEEQLRLEAKA>E<AQEGELLVRDEFSVLCRDLYALYPLLIRYV3416
RYR3SHFIPTLEKLKKKAVKTVQEEEQLKADGKG>D<TQEAELLILDEFAVLCRDLYAFYPMLIRYV3273
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D3347Nc.10039G>A Putative BenignSIFT: deleterious
Polyphen: benign