Paralogue Annotation for RYR1 residue 429

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 429
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 429

No paralogue variants have been mapped to residue 429 for RYR1.

RYR1	AARMIHSTNGLYNQFIKSLDSFSGKPRGSG>P<PAGTALPIEGVILSLQDLIIYFEPPSEDLQ	459
RYR2	TARVIRSTVFLFNRFIRGLDALSKKAKA-->-<-STVDLPIESVSLSLQDLIGYFHPPDEHLE	471
RYR3	AARIIRNTTALFSQFVSGN-----NRTA-->-<-APITLPIEEVLQTLQDLIAYFQPPEEEMR	458
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P429L	c.1286C>T	Putative Benign		rs201054455	SIFT: Polyphen: possibly damaging