Paralogue Annotation for RYR2 residue 1617

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1617
Reference Amino Acid: W - Tryptophan
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1617

No paralogue variants have been mapped to residue 1617 for RYR2.

RYR2	HVQFLSHVLWSRMPNQFLKVDVSRISERQG>W<LVQCLDPLQFMSLHIPEENRSVDILELTEQ	1647
RYR1	EMQMLMPVSWSRMPNHFLQVETRRAGERLG>W<AVQCQEPLTMMALHIPEENRCMDILELSER	1655
RYR3	DVQTIQPVLWSRMPNSFLKVETERVSERHG>W<VVQCLEPLQMMALHIPEENRCVDILELCEQ	1551
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.W1617C	c.4851G>T	Putative Benign		rs376104380	SIFT: deleterious Polyphen: probably damaging