Paralogue Annotation for RYR1 residue 475

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 475
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 475

No paralogue variants have been mapped to residue 475 for RYR1.

RYR1	QDLIIYFEPPSEDLQHEEKQSKLRSLRNRQ>S<LFQEEGMLSMVLNCIDRLNVYTTAAHFAEF	505
RYR2	QDLIGYFHPPDEHLEHEDKQNRLRALKNRQ>N<LFQEEGMINLVLECIDRLHVYSSAAHFADV	517
RYR3	QDLIAYFQPPEEEMRHEDKQNKLRSLKNRQ>N<LFKEEGMLALVLNCIDRLNVYNSVAHFAGI	504
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S475C	c.1423A>T	Putative Benign			SIFT: Polyphen:
p.S475R	c.1425C>A	Putative Benign			SIFT: Polyphen: