Paralogue Annotation for RYR1 residue 2624

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2624
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2624

No paralogue variants have been mapped to residue 2624 for RYR1.

RYR1	SLTKAQRDVIEDCLMSLCRYIRPSMLQHLL>R<RLVFDVPILNEFAKMPLKLLTNHYERCWKY	2654
RYR2	SLTKAQRDSIEVCLLSICGQLRPSMMQHLL>R<RLVFDVPLLNEHAKMPLKLLTNHYERCWKY	2620
RYR3	SLTKAQRDTIEECLLAICNHLRPSMLQQLL>R<RLVFDVPQLNEYCKMPLKLLTNHYEQCWKY	2517
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2624C	c.7870C>T	Putative Benign			SIFT: Polyphen: