IthaID: 1134
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 98 GTG>GCG | HGVS Name: | HBB:c.296T>C |
| Hb Name: | Hb Djelfa | Protein Info: | β 98(FG5) Val>Ala |
Context nucleotide sequence:
GAGCTGCACTGTGACAAGCTGCACG [A/C/G/T] GGATCCTGAGAACTTCAGGGTGAGT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHADPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71020 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Caucasian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Bird AR, Elliott T, Wilson JB, Webber BB, Hu H, Kutlar A, Kutlar F, Huisman TH, Two rare unstable beta chain variants, Hb Mozhaisk or alpha 2 beta 292(F8)His----Arg and Hb Djelfa or alpha 2 beta 298(Fg5)Val----Ala, each being observed for the second time., Hemoglobin, 13(2), 193-7, 1989
Created on 2010-06-16 16:13:16,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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