Paralogue Annotation for RYR1 residue 3051

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3051
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3051

No paralogue variants have been mapped to residue 3051 for RYR1.

RYR1	PAKVLGSGGHASNKEKEMITSLFCKLAALV>R<HRVSLFGTDAPAVVNCLHILARSLDARTVM	3081
RYR2	ASRPLCSGGHASNKEKEMVTSLFCKLGVLV>R<HRISLFGNDATSIVNCLHILGQTLDARTVM	3046
RYR3	PLKPLSSSGYASHKEKEMVAGLFCKLAALV>R<HRISLFGSDSTTMVSCLHILAQTLDTRTVM	2942
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3051H	c.9152G>A	Putative Benign		rs147303895	SIFT: Polyphen: possibly damaging
p.R3051C	c.9151C>T	Putative Benign			SIFT: Polyphen: