Paralogue Annotation for RYR2 residue 1594

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1594
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1594

No paralogue variants have been mapped to residue 1594 for RYR2.



RYR2MPLSAGLFKSEHKNPVPQCPPRLHVQFLSH>V<LWSRMPNQFLKVDVSRISERQGWLVQCLDP1624
RYR1MPLSAAMFQSERKNPAPQCPPRLEMQMLMP>V<SWSRMPNHFLQVETRRAGERLGWAVQCQEP1632
RYR3MPLSAAIFRSEEKNPVPQCPPRLDVQTIQP>V<LWSRMPNSFLKVETERVSERHGWVVQCLEP1528
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Val1594Ilec.4780G>A UnknownSIFT:
Polyphen: