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.

RYR2	YAIENKYMPGLLRAGYYDLLIDIHLSSYAT>A<RLMMNNEYIVPMTEETKSITLFPD------	1741
RYR1	HALEDAHLPGPLRAGYYDLLISIHLESACR>S<RRSMLSEYIVPLTPETRAITLFPPGRSTEN	1755
RYR3	YAIDNKYLPGLLRSGFYDLLISIHLASAKE>R<KLMMKNEYIIPITSTTRNIRLFPD------	1645
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1717S	c.5149G>T	Putative Benign			SIFT: tolerated Polyphen: possibly damaging