Paralogue Annotation for RYR1 residue 438

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 438
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 438

No paralogue variants have been mapped to residue 438 for RYR1.

RYR1	GLYNQFIKSLDSFSGKPRGSGPPAGTALPI>E<GVILSLQDLIIYFEPPSEDLQHEEKQSKLR	468
RYR2	FLFNRFIRGLDALSKKAKA----STVDLPI>E<SVSLSLQDLIGYFHPPDEHLEHEDKQNRLR	480
RYR3	ALFSQFVSGN-----NRTA----APITLPI>E<EVLQTLQDLIAYFQPPEEEMRHEDKQNKLR	467
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E438K	c.1312G>A	Putative Benign			SIFT: Polyphen: