Paralogue Annotation for RYR1 residue 1950

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1950
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1950

No paralogue variants have been mapped to residue 1950 for RYR1.

RYR1	EGLEEGLLQMKLPESVKLQMCHLLEYFCDQ>E<LQHRVESLAAFAERYVDKLQANQRSRYGLL	1980
RYR2	KRPKEGLLQMKLPEPVKLQMCLLLQYLCDC>Q<VRHRIEAIVAFSDDFVAKLQDNQRFRYNEV	1947
RYR3	EAPVKGLLQTRLPESVKLQMCELLSYLCDC>E<LQHRVEAIVAFGDIYVSKLQANQKFRYNEL	1848
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1950Q	c.5848G>C	Putative Benign			SIFT: Polyphen:
p.E1950V	c.5849A>T	Putative Benign			SIFT: Polyphen: