Paralogue Annotation for RYR1 residue 2629

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2629
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2629

No paralogue variants have been mapped to residue 2629 for RYR1.

RYR1	QRDVIEDCLMSLCRYIRPSMLQHLLRRLVF>D<VPILNEFAKMPLKLLTNHYERCWKYYCLPT	2659
RYR2	QRDSIEVCLLSICGQLRPSMMQHLLRRLVF>D<VPLLNEHAKMPLKLLTNHYERCWKYYCLPG	2625
RYR3	QRDTIEECLLAICNHLRPSMLQQLLRRLVF>D<VPQLNEYCKMPLKLLTNHYEQCWKYYCLPS	2522
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D2629E	c.7887C>G	Putative Benign			SIFT: Polyphen: