Paralogue Annotation for RYR2 residue 4469

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4469
Reference Amino Acid: R - Arginine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4469

No paralogue variants have been mapped to residue 4469 for RYR2.

RYR2	GEKEEKAKEDKGKQKLR--------QLHTH>R<YGEPEVPESAFWKKIIAYQQKLLNYFARNF	4499
RYR1	GEKEEVPEPTPEPPKKQ---------APPS>P<PPKKEEAGGEFWGELEVQRVKFLNYLSRNF	4560
RYR3	GEKEDKDKEEEQAEYLWTEVTKKKKRRCGQ>K<VEKPEAFTANFFKGLEIYQTKLLHYLARNF	4410
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4469G	c.13405A>G	Putative Benign		rs367809296	SIFT: tolerated Polyphen: possibly damaging
p.R4469T	c.13406G>C	Putative Benign			SIFT: Polyphen: