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.

RYR2	HVDEPQLLYAIENKYMPGLLRAGYYDLLID>I<HLSSYATARLMMNNEYIVPMTEETKSITLF	1739
RYR1	HVDQAQLLHALEDAHLPGPLRAGYYDLLIS>I<HLESACRSRRSMLSEYIVPLTPETRAITLF	1747
RYR3	HVDLSQLFYAIDNKYLPGLLRSGFYDLLIS>I<HLASAKERKLMMKNEYIIPITSTTRNIRLF	1643
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1709L	c.5125A>C	Putative Benign			SIFT: Polyphen: