Paralogue Annotation for RYR1 residue 4143

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4143
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4143

No paralogue variants have been mapped to residue 4143 for RYR1.



RYR1CSEADENEMINCEEFANRFQEPARDIGFNV>A<VLLTNLSEHVPHDPRLHNFLELAESILEYF4173
RYR2CAETDENETLDYEEFVKRFHEPAKDIGFNV>A<VLLTNLSEHMPNDTRLQTFLELAESVLNYF4129
RYR3CAEADENDMFNYVDFVDRFHEPAKDIGFNV>A<VLLTNLSEHMPNDSRLKCLLDPAESVLNYF4025
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A4143Vc.12428C>T Putative BenignSIFT:
Polyphen: