Paralogue Annotation for RYR2 residue 1705

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1705
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1705

No paralogue variants have been mapped to residue 1705 for RYR2.

RYR2	ALCSHVDEPQLLYAIENKYMPGLLRAGYYD>L<LIDIHLSSYATARLMMNNEYIVPMTEETKS	1735
RYR1	ALCSHVDQAQLLHALEDAHLPGPLRAGYYD>L<LISIHLESACRSRRSMLSEYIVPLTPETRA	1743
RYR3	ALCSHVDLSQLFYAIDNKYLPGLLRSGFYD>L<LISIHLASAKERKLMMKNEYIIPITSTTRN	1639
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1705V	c.5113C>G	Putative Benign			SIFT: Polyphen: