Paralogue Annotation for RYR2 residue 1618

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1618
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1618

No paralogue variants have been mapped to residue 1618 for RYR2.

RYR2	VQFLSHVLWSRMPNQFLKVDVSRISERQGW>L<VQCLDPLQFMSLHIPEENRSVDILELTEQE	1648
RYR1	MQMLMPVSWSRMPNHFLQVETRRAGERLGW>A<VQCQEPLTMMALHIPEENRCMDILELSERL	1656
RYR3	VQTIQPVLWSRMPNSFLKVETERVSERHGW>V<VQCLEPLQMMALHIPEENRCVDILELCEQE	1552
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1618S	c.4853T>C	Putative Benign			SIFT: Polyphen: