Paralogue Annotation for RYR1 residue 818

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 818
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 818

No paralogue variants have been mapped to residue 818 for RYR1.

RYR1	VRFLLGGRHGEFKFLPPPGYAPCHEAVLPR>E<RLHLEPIKEYRREGPRGPHLVGPSRCLSHT	848
RYR2	VRFLLGGRHGEFKFLPPPGYAPCYEAVLPK>E<KLKVEHSREYKQERTYTRDLLGPTVSLTQA	860
RYR3	VRFLMGGRHGEFKFLPPSGYAPCYEALLPK>E<KMRLEPVKEYKRDADGIRDLLGTTQFLSQA	847
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E818A	c.2453A>C	Putative Benign		rs374367026	SIFT: tolerated Polyphen: possibly damaging