Paralogue Annotation for RYR2 residue 4467

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4467
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4467

No paralogue variants have been mapped to residue 4467 for RYR2.

RYR2	EDGEKEEKAKEDKGKQKLR--------QLH>T<HRYGEPEVPESAFWKKIIAYQQKLLNYFAR	4497
RYR1	ENGEKEEVPEPTPEPPKKQ---------AP>P<SPPPKKEEAGGEFWGELEVQRVKFLNYLSR	4558
RYR3	EDGEKEDKDKEEEQAEYLWTEVTKKKKRRC>G<QKVEKPEAFTANFFKGLEIYQTKLLHYLAR	4408
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T4467A	c.13399A>G	Putative Benign			SIFT: Polyphen: