Paralogue Annotation for RYR1 residue 1059

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1059
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1059

No paralogue variants have been mapped to residue 1059 for RYR1.



RYR1ATKRSNRDSLCQAVRTLLGYGYNIEPPDQE>P<-SQVEN-QSRCDRVRIFRAEKSYTVQSGRW1087
RYR2RTKKSNKDSLREAVRTLLGYGYNLEAPDQD>H<AARAEVCSGTGERFRIFRAEKTYAVKAGRW1101
RYR3RTKKSNRDSLREAVRTFVGYGYNIEPSDQE>L<-ADSAVEKVSIDKIRFFRVERSYAVRSGKW1087
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1059Sc.3175C>T Putative BenignSIFT: tolerated
Polyphen: benign