Paralogue Annotation for RYR1 residue 2630

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2630
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2630

No paralogue variants have been mapped to residue 2630 for RYR1.

RYR1	RDVIEDCLMSLCRYIRPSMLQHLLRRLVFD>V<PILNEFAKMPLKLLTNHYERCWKYYCLPTG	2660
RYR2	RDSIEVCLLSICGQLRPSMMQHLLRRLVFD>V<PLLNEHAKMPLKLLTNHYERCWKYYCLPGG	2626
RYR3	RDTIEECLLAICNHLRPSMLQQLLRRLVFD>V<PQLNEYCKMPLKLLTNHYEQCWKYYCLPSG	2523
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2630L	c.7888G>C	Putative Benign		rs193922825	SIFT: Polyphen: benign
p.V2630M	c.7888G>A	Putative Benign			SIFT: Polyphen: