Paralogue Annotation for RYR2 residue 2395

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2395
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2395

No paralogue variants have been mapped to residue 2395 for RYR2.

RYR2	S-GSSKTLDTEEEEDDTIHMGNAIMTFYSA>L<IDLLGRCAPEMHLIHAGKGEAIRIRSILRS	2425
RYR1	RDRRREHFGEEPPEENRVHLGHAIMSFYAA>L<IDLLGRCAPEMHLIQAGKGEALRIRAILRS	2459
RYR3	Y-KREVSTGDDEEEEEIVHMGNAIMSFYSA>L<IDLLGRCAPEMHLIQTGKGEAIRIRSILRS	2322
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2395M	c.7183T>A	Putative Benign		rs374678615	SIFT: deleterious Polyphen: probably damaging