Paralogue Annotation for RYR2 residue 4486

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4486
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4486

No paralogue variants have been mapped to residue 4486 for RYR2.

RYR2	--------QLHTHRYGEPEVPESAFWKKII>A<YQQKLLNYFARNFYNMRMLALFVAFAINFI	4516
RYR1	---------APPSPPPKKEEAGGEFWGELE>V<QRVKFLNYLSRNFYTLRFLALFLAFAINFI	4577
RYR3	TEVTKKKKRRCGQKVEKPEAFTANFFKGLE>I<YQTKLLHYLARNFYNLRFLALFVAFAINFI	4427
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4486G	c.13457C>G	Putative Benign			SIFT: Polyphen: