Paralogue Annotation for RYR2 residue 2365

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2365
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2365

No paralogue variants have been mapped to residue 2365 for RYR2.

RYR2	LRGEGGNGLLAAMEEAIKIAEDPSRDGPSP>N<S-GSSKTLDTEEEEDDTIHMGNAIMTFYSA	2394
RYR1	LRGEGGSGLLAAIEEAIRISEDPARDGPGI>R<RDRRREHFGEEPPEENRVHLGHAIMSFYAA	2428
RYR3	LRGEGGNGLLAAMQGAIKISENPALDLPSQ>G<Y-KREVSTGDDEEEEEIVHMGNAIMSFYSA	2291
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N2365S	c.7094A>G	Putative Benign		rs369774984	SIFT: tolerated Polyphen: benign
p.N2365K	c.7095T>G	Putative Benign			SIFT: Polyphen: benign