IthaID: 1304
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 144 AAG>ATG | HGVS Name: | HBB:c.434A>T |
| Hb Name: | Hb Barbizon | Protein Info: | β 144(HC1) Lys>Met |
Context nucleotide sequence:
GGTGTGGCTAATGCCCTGGCCCACA [A/T] GTATCACTAAGCTCGCTTTCTTGCT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHMYH
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: | N/A |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 72008 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | French |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Kister J, Préhu C, Riou J, Godart C, Bardakdjian J, Promé D, Galactéros F, Wajcman H, Two hemoglobin variants with an alteration of the oxygen-linked chloride binding: Hb Antananarivo [alpha1(NA1)Val-->Gly] and Hb Barbizon [beta144(HC1)Lys-->Met]., Hemoglobin, 23(1), 21-32, 1999
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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