Paralogue Annotation for RYR2 residue 1614

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1614
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1614

No paralogue variants have been mapped to residue 1614 for RYR2.

RYR2	PRLHVQFLSHVLWSRMPNQFLKVDVSRISE>R<QGWLVQCLDPLQFMSLHIPEENRSVDILEL	1644
RYR1	PRLEMQMLMPVSWSRMPNHFLQVETRRAGE>R<LGWAVQCQEPLTMMALHIPEENRCMDILEL	1652
RYR3	PRLDVQTIQPVLWSRMPNSFLKVETERVSE>R<HGWVVQCLEPLQMMALHIPEENRCVDILEL	1548
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1614S	c.4840C>A	Putative Benign		rs373079767	SIFT: tolerated Polyphen: possibly damaging
p.R1614C	c.4840C>T	Putative Benign			SIFT: tolerated Polyphen: probably damaging
p.R1614H	c.4841G>A	Putative Benign			SIFT: Polyphen: