Paralogue Annotation for RYR1 residue 2632

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2632
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2632

No paralogue variants have been mapped to residue 2632 for RYR1.

RYR1	VIEDCLMSLCRYIRPSMLQHLLRRLVFDVP>I<LNEFAKMPLKLLTNHYERCWKYYCLPTGWA	2662
RYR2	SIEVCLLSICGQLRPSMMQHLLRRLVFDVP>L<LNEHAKMPLKLLTNHYERCWKYYCLPGGWG	2628
RYR3	TIEECLLAICNHLRPSMLQQLLRRLVFDVP>Q<LNEYCKMPLKLLTNHYEQCWKYYCLPSGWG	2525
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2632M	c.7896C>G	Putative Benign		rs201090618	SIFT: Polyphen: benign