Paralogue Annotation for RYR1 residue 112

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 112
Reference Amino Acid: H - Histidine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 112

No paralogue variants have been mapped to residue 112 for RYR1.



RYR1-E-------SSQGGGHRTLLYGHAILLRHA>H<SRMYLSCLTTSRSMTDKLAFDVGLQEDATG142
RYR2VEKWKFMMKTAQGGGHRTLLYGHAILLRHS>Y<SGMYLCCLSTSRSSTDKLAFDVGLQEDTTG155
RYR3-G-------AAQGGGHRTLLYGHAVLLRHS>F<SGMYLTCLTTSRSQTDKLAFDVGLREHATG145
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H112Qc.336C>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935
p.H112Yc.334C>T Putative BenignSIFT:
Polyphen: