Paralogue Annotation for RYR1 residue 440

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 440
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 440

No paralogue variants have been mapped to residue 440 for RYR1.

RYR1	YNQFIKSLDSFSGKPRGSGPPAGTALPIEG>V<ILSLQDLIIYFEPPSEDLQHEEKQSKLRSL	470
RYR2	FNRFIRGLDALSKKAKA----STVDLPIES>V<SLSLQDLIGYFHPPDEHLEHEDKQNRLRAL	482
RYR3	FSQFVSGN-----NRTA----APITLPIEE>V<LQTLQDLIAYFQPPEEEMRHEDKQNKLRSL	469
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V440I	c.1318G>A	Putative Benign			SIFT: Polyphen: