Paralogue Annotation for RYR2 residue 2716

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2716
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2716

No paralogue variants have been mapped to residue 2716 for RYR2.

RYR2	VSMMEKQSSMDSEGNFNPQPVDTSNITIPE>K<LEYFINKYAEHSHDKWSMDKLANGWIYGEI	2746
RYR1	SSKAEKKATVDAEGNFDPRPVETLNVIIPE>K<LDSFINKFAEYTHEKWAFDKIQNNWSYGEN	2780
RYR3	TATLEKQISVDADGNFDPKPINTMNFSLPE>K<LEYIVTKYAEHSHDKWACDKSQSGWKYGIS	2643
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K2716I	c.8147A>T	Putative Benign			SIFT: Polyphen: