Paralogue Annotation for RYR1 residue 439

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 439
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 439

No paralogue variants have been mapped to residue 439 for RYR1.

RYR1	LYNQFIKSLDSFSGKPRGSGPPAGTALPIE>G<VILSLQDLIIYFEPPSEDLQHEEKQSKLRS	469
RYR2	LFNRFIRGLDALSKKAKA----STVDLPIE>S<VSLSLQDLIGYFHPPDEHLEHEDKQNRLRA	481
RYR3	LFSQFVSGN-----NRTA----APITLPIE>E<VLQTLQDLIAYFQPPEEEMRHEDKQNKLRS	468
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G439D	c.1316G>A	Putative Benign			SIFT: Polyphen: