Paralogue Annotation for RYR2 residue 1717

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1717
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1717

No paralogue variants have been mapped to residue 1717 for RYR2.



RYR2YAIENKYMPGLLRAGYYDLLIDIHLSSYAT>A<RLMMNNEYIVPMTEETKSITLFPD------1741
RYR1HALEDAHLPGPLRAGYYDLLISIHLESACR>S<RRSMLSEYIVPLTPETRAITLFPPGRSTEN1755
RYR3YAIDNKYLPGLLRSGFYDLLISIHLASAKE>R<KLMMKNEYIIPITSTTRNIRLFPD------1645
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1717Sc.5149G>T Putative BenignSIFT: tolerated
Polyphen: possibly damaging