Paralogue Annotation for RYR2 residue 3720

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3720
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3720

No paralogue variants have been mapped to residue 3720 for RYR2.



RYR2IMAKSCHDEED-D--DGEEE-VKSFEEKEM>E<KQKLLYQQARLHDRGAAEMVLQTISASKGE3750
RYR1IMAKSCHLEEGGENGEAEEEVEVSFEEKQM>E<KQRLLYQQARLHTRGAAEMVLQMISACKGE3788
RYR3MMAKSCQSGED-E--EEDEDKEKTFEEKEM>E<KQKTLYQQARLHERGAAEMVLQMISASKGE3640
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E3720Qc.11158G>C Putative BenignSIFT:
Polyphen: