Paralogue Annotation for RYR1 residue 2803

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2803
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2803

No paralogue variants have been mapped to residue 2803 for RYR1.

RYR1	NNWSYGENIDEELKTHPMLRPYKTFSEKDK>E<IYRWPIKESLKAMIAWEWTIEKAREGEEEK	2833
RYR2	NGWIYGEIYSDSSKVQPLMKPYKLLSEKEK>E<IYRWPIKESLKTMLAWGWRIERTREGDSMA	2799
RYR3	SGWKYGISLDENVKTHPLIRPFKTLTEKEK>E<IYRWPARESLKTMLAVGWTVERTKEGEALV	2696
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2803D	c.8409G>T	Putative Benign			SIFT: Polyphen: