Paralogue Annotation for RYR1 residue 482

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 482
Reference Amino Acid: M - Methionine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 482

No paralogue variants have been mapped to residue 482 for RYR1.



RYR1EPPSEDLQHEEKQSKLRSLRNRQSLFQEEG>M<LSMVLNCIDRLNVYTTAAHFAEFAGEEAAE512
RYR2HPPDEHLEHEDKQNRLRALKNRQNLFQEEG>M<INLVLECIDRLHVYSSAAHFADVAGREAGE524
RYR3QPPEEEMRHEDKQNKLRSLKNRQNLFKEEG>M<LALVLNCIDRLNVYNSVAHFAGIAREESGM511
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M482Lc.1444A>T Putative BenignSIFT: deleterious
Polyphen: possibly damaging