IthaID: 3370
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 140 GCC>ACC [Ala>Thr] AND CD 139 (-AAT) | HGVS Name: | HBB:c.[421G>A;418_420delAAT] |
| Hb Name: | Hb Templeuve | Protein Info: | β 140(H18) Ala>Thr AND β 139(H17) Asn->0 |
Also known as:
Comments: Found in a heterozygous state.
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: | Hyperunstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71992 or 71995 |
| Size: | 3 bp or 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Rose C, Bauters F, Galacteros F, Hydroxyurea therapy in highly unstable hemoglobin carriers., Blood, 88(7), 2807-8, 1996
Created on 2019-04-05 12:40:38,
Last reviewed on (Show full history)
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