Paralogue Annotation for RYR1 residue 2792

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2792
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2792

No paralogue variants have been mapped to residue 2792 for RYR1.

RYR1	THEKWAFDKIQNNWSYGENIDEELKTHPML>R<PYKTFSEKDKEIYRWPIKESLKAMIAWEWT	2822
RYR2	SHDKWSMDKLANGWIYGEIYSDSSKVQPLM>K<PYKLLSEKEKEIYRWPIKESLKTMLAWGWR	2788
RYR3	SHDKWACDKSQSGWKYGISLDENVKTHPLI>R<PFKTLTEKEKEIYRWPARESLKTMLAVGWT	2685
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2792K	c.8375G>A	Putative Benign			SIFT: Polyphen: benign