Paralogue Annotation for RYR2 residue 617

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 617
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 617

No paralogue variants have been mapped to residue 617 for RYR2.

RYR2	NIIKEGHIKSIISLLDKHGRNHKVLDVLCS>L<CVCHGVAVRSNQHLICDNLLPGRDLLLQTR	647
RYR1	NIIQENHIKSIISLLDKHGRNHKVLDVLCS>L<CVCNGVAVRSNQDLITENLLPGRELLLQTN	635
RYR3	NLIAEGHIKSIISLLDKHGRNHKVLDILCS>L<CLCNGVAVRANQNLICDNLLPRRNLLLQTR	634
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L617P	c.1850T>C	Putative Benign			SIFT: Polyphen: