Paralogue Annotation for RYR2 residue 4524

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4524
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4524

No paralogue variants have been mapped to residue 4524 for RYR2.

RYR2	YFARNFYNMRMLALFVAFAINFILLFYKVS>T<SSVVEGKE------LPTRSSSENAK-VTSL	4547
RYR1	YLSRNFYTLRFLALFLAFAINFILLFYKVS>D<SPPGEDDMEGSAAGDVSGAGSGGSSGW-GL	4614
RYR3	YLARNFYNLRFLALFVAFAINFILLFYKVT>E<EPLEEETE------DVANLWN-------SF	4452
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T4524A	c.13570A>G	Putative Benign			SIFT: Polyphen:
p.T4524I	c.13571C>T	Putative Benign			SIFT: Polyphen: