Paralogue Annotation for RYR1 residue 4138

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4138
Reference Amino Acid: I - Isoleucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4138

No paralogue variants have been mapped to residue 4138 for RYR1.



RYR1QFLLSCSEADENEMINCEEFANRFQEPARD>I<GFNVAVLLTNLSEHVPHDPRLHNFLELAES4168
RYR2EFLLSCAETDENETLDYEEFVKRFHEPAKD>I<GFNVAVLLTNLSEHMPNDTRLQTFLELAES4124
RYR3DFLLSCAEADENDMFNYVDFVDRFHEPAKD>I<GFNVAVLLTNLSEHMPNDSRLKCLLDPAES4020
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I4138Tc.12413T>C Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943