Paralogue Annotation for RYR2 residue 1709

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1709
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1709

No paralogue variants have been mapped to residue 1709 for RYR2.



RYR2HVDEPQLLYAIENKYMPGLLRAGYYDLLID>I<HLSSYATARLMMNNEYIVPMTEETKSITLF1739
RYR1HVDQAQLLHALEDAHLPGPLRAGYYDLLIS>I<HLESACRSRRSMLSEYIVPLTPETRAITLF1747
RYR3HVDLSQLFYAIDNKYLPGLLRSGFYDLLIS>I<HLASAKERKLMMKNEYIIPITSTTRNIRLF1643
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I1709Lc.5125A>C Putative BenignSIFT:
Polyphen: