Paralogue Annotation for RYR1 residue 4117

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4117
Reference Amino Acid: D - Aspartate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4117

No paralogue variants have been mapped to residue 4117 for RYR1.



RYR1ISKKDFQKAMDSQKQFSGPEIQFLLSCSEA>D<ENEMINCEEFANRFQEPARDIGFNVAVLLT4147
RYR2ISKRDFHKAMESHKHYTQSETEFLLSCAET>D<ENETLDYEEFVKRFHEPAKDIGFNVAVLLT4103
RYR3ISKKEFQKAMEGQKQYTQSEIDFLLSCAEA>D<ENDMFNYVDFVDRFHEPAKDIGFNVAVLLT3999
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D4117Nc.12349G>A Putative BenignSIFT:
Polyphen:
p.D4117Vc.12350A>T Putative BenignSIFT:
Polyphen: