Paralogue Annotation for RYR1 residue 469

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 469
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 469

No paralogue variants have been mapped to residue 469 for RYR1.

RYR1	GVILSLQDLIIYFEPPSEDLQHEEKQSKLR>S<LRNRQSLFQEEGMLSMVLNCIDRLNVYTTA	499
RYR2	SVSLSLQDLIGYFHPPDEHLEHEDKQNRLR>A<LKNRQNLFQEEGMINLVLECIDRLHVYSSA	511
RYR3	EVLQTLQDLIAYFQPPEEEMRHEDKQNKLR>S<LKNRQNLFKEEGMLALVLNCIDRLNVYNSV	498
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S469T	c.1406G>C	Putative Benign			SIFT: tolerated Polyphen: possibly damaging