Paralogue Annotation for RYR2 residue 2720

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2720
Reference Amino Acid: F - Phenylalanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2720

No paralogue variants have been mapped to residue 2720 for RYR2.

RYR2	EKQSSMDSEGNFNPQPVDTSNITIPEKLEY>F<INKYAEHSHDKWSMDKLANGWIYGEIYSDS	2750
RYR1	EKKATVDAEGNFDPRPVETLNVIIPEKLDS>F<INKFAEYTHEKWAFDKIQNNWSYGENIDEE	2784
RYR3	EKQISVDADGNFDPKPINTMNFSLPEKLEY>I<VTKYAEHSHDKWACDKSQSGWKYGISLDEN	2647
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F2720L	c.8158T>C	Putative Benign			SIFT: Polyphen: