HBB, GLU6VAL
The glutamic acid in position 6 in the primary sequence of a beta-chain produced by the HBB gene is replaced by valine.
Sickle Cell Disease Ontology Project
Term info
curator note
Request inclusion into relevant ontology
definition source
http://www.bloodjournal.org/content/bloodjournal/46/3/363.full.pdf?sso-checked=true
existence in other ontologies
Negligable
Beta S Mutation, E6V, Glu6Val, Sickle Cell Mutation
Term relations
Related from:
has contributing genetic variation
- Hemoglobin Genotype AS
- Hemoglobin Genotype S/Beta Minus Thalassaemia
- Hemoglobin Genotype C/S Antilles
- Hemoglobin Genotype S/Quebec-Chori
- Hemoglobin Genotype A/S-Oman
- Hemoglobin Genotype S/S-South End
- Hemoglobin Genotype S/C-Harlem
- Hemoglobin Genotype SS
- Hemoglobin Genotype SD
- Hemoglobin Genotype S/Lepore Boston
- Hemoglobin Genotype A/Jamaica Plain
- Hemoglobin Genotype S/Beta Zero Thalassaemia
- Hemoglobin Genotype S/HPFH
- Hemoglobin Genotype S/Beta Thalassemia
- Hemoglobin Genotype SC
- Hemoglobin Genotype S/D-Punjab
- Hemoglobin Genotype SE
- Hemoglobin Genotype S/O-Arab
has causal or contributing genetic variation
- Polymerised Hemoglobin
- Sickle Cell Disease A/S-Oman
- Sickle Cell Disease C/S Antilles
- Sickle Cell Disease A/Jamaica Plain
- Hemoglobin C-Harlem Disease
- Hemoglobin S-South End
- Moderate Sickle Cell Disease-S Beta Minus Thalassemia
- Severe Sickle Cell Disease-S Beta Minus Thalassemia
- Mild Sickle Cell Disease-S Beta Minus Thalassemia
- Sickle Cell Disease-S/S-South End
- Sickle Cell Disease-S/Quebec Chori
- Sickle Cell Disease-S/C-Harlem
- Hemoglobin C-Harlem
- Hemoglobin S-Antilles
- Hemoglobin S-Oman
- Hemoglobin Jamaica Plain
- Sickle Cell Thalassemia
- Sickle Cell Disease-SC
- Sickle Beta Thalassemia
- Sickle Cell Disease-S Beta Minus Thalassemia
- Sickle Cell Trait
- Sickle Cell Disease-S/O-Arab
- Sickle Cell Disease-S/Lepore Boston
- Sickle Cell Disease-SE
- Sickle Cell Disease-S/D-Punjab
- Sickle Cell Disease-SD
- Sickle Cell Disease
- Sickle Cell Disease-SS
- Hemoglobin S
- Sickle Cell Disease-S/HPFH