IthaID: 721
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 116-117 +15 bp [+His-Leu-Pro-Ala-Glu] | HGVS Name: | HBA1:c.337_351dup | HBA2:c.337_351dup |
| Hb Name: | Hb Zaïre | Protein Info: | His-Leu-Pro-Ala-Glu- inserted between codons 116(GH4) and 117(GH5) of α1 or α2 |
Also known as:
Comments: The 15bp duplication found in a 36-year-old patient from Zaire, involving 5 tandemly repeated amino acids.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34371 or 38182 |
| Size: | 15 bp or 15 bp |
| Located at: | α1 or α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Zairian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Otherwise, use this external link.
Publications / Origin
- Wajcman H, Blouquit Y, Vasseur C, Le Querrec A, Laniece M, Melevendi C, Rasore A, Galacteros F, Two new human hemoglobin variants caused by unusual mutational events: Hb Zaïre contains a five residue repetition within the alpha-chain and Hb Duino has two residues substituted in the beta-chain., Human genetics, 89(6), 676-80, 1992 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2020-05-04 13:06:14 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-14 17:44:17 | The IthaGenes Curation Team | Reviewed. Added common name, reference and ClinVar link. Corrected size. |
| 4 | 2020-04-29 21:37:42 | The IthaGenes Curation Team | Reviewed. Chromosome and locus location corrected. HGVS name and comment added. |
| 5 | 2020-04-30 16:44:24 | The IthaGenes Curation Team | Reviewed. Type of mutation corrected. |
| 6 | 2020-05-04 13:06:14 | The IthaGenes Curation Team | Reviewed. Specific location added. |
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IthaGenes was last updated on 2024-11-20 13:24:07