Paralogue Annotation for RYR1 residue 4457

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4457
Reference Amino Acid: M - Methionine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4457

No paralogue variants have been mapped to residue 4457 for RYR1.



RYR1HEAGPGGADGAVAVTDGGPFRPEGAGGLGD>M<GDTTPAEPPTPEGSP-ILKRKLGVDGVEEE4486
RYR2SD-----IFGLDLKREGGQYKLIPHNPNAG>L<SDLMSN-PVPMPE-V-QEKFQEQ--KA---4424
RYR3SD-----LFGLHPKKEGS-LKHGPEVGLGD>L<SEIIGKDEPPTLESTVQKKRKA---QA---4327
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M4457Lc.13369A>T Putative BenignSIFT: tolerated
Polyphen: