Paralogue Annotation for RYR2 residue 1650

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1650
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1650

No paralogue variants have been mapped to residue 1650 for RYR2.

RYR2	QCLDPLQFMSLHIPEENRSVDILELTEQEE>L<LKFHYHTLRLYSAVCALGNHRVAHALCSHV	1680
RYR1	QCQEPLTMMALHIPEENRCMDILELSERLD>L<QRFHSHTLRLYRAVCALGNNRVAHALCSHV	1688
RYR3	QCLEPLQMMALHIPEENRCVDILELCEQED>L<MRFHYHTLRLYSAVCALGNSRVAYALCSHV	1584
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1650F	c.4950G>C	Putative Benign		rs376251968	SIFT: deleterious Polyphen: probably damaging