Paralogue Annotation for RYR1 residue 3597

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3597
Reference Amino Acid: Q - Glutamine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3597

No paralogue variants have been mapped to residue 3597 for RYR1.

RYR1	PGREEDADDPEKIVRRV------------->Q<EVSAVLYYLDQTEHPYKSKKAVWHKLLSKQ	3627
RYR2	PNRTDDTSDPEKTVERVLDIANVLFHLEQK>S<KRVGRRHYCL-VEHPQRSKKAVWHKLLSKQ	3594
RYR3	LK-SEEPFNPEKTVERV------------->Q<RISAAVFHLEQVEQPLRSKKAVWHKLLSKQ	3482
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q3597K	c.10789C>A	Putative Benign		rs200994404	SIFT: Polyphen: benign