Paralogue Annotation for RYR2 residue 4485

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4485
Reference Amino Acid: I - Isoleucine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4485

No paralogue variants have been mapped to residue 4485 for RYR2.

RYR2	R--------QLHTHRYGEPEVPESAFWKKI>I<AYQQKLLNYFARNFYNMRMLALFVAFAINF	4515
RYR1	Q---------APPSPPPKKEEAGGEFWGEL>E<VQRVKFLNYLSRNFYTLRFLALFLAFAINF	4576
RYR3	WTEVTKKKKRRCGQKVEKPEAFTANFFKGL>E<IYQTKLLHYLARNFYNLRFLALFVAFAINF	4426
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I4485V	c.13453A>G	Putative Benign			SIFT: Polyphen: