Paralogue Annotation for RYR2 residue 3593

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3593
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3593

No paralogue variants have been mapped to residue 3593 for RYR2.



RYR2KSKRVGRRHYCL-VEHPQRSKKAVWHKLLS>K<QRKRAVVACFRMAPLYNLPRHRAVNLFLQG3623
RYR1-QEVSAVLYYLDQTEHPYKSKKAVWHKLLS>K<QRRRAVVACFRMTPLYNLPTHRACNMFLES3656
RYR3-QRISAAVFHLEQVEQPLRSKKAVWHKLLS>K<QRKRAVVACFRMAPLYNLPRHRSINLFLHG3511
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K3593Nc.10779G>C Putative BenignSIFT: deleterious
Polyphen: possibly damaging