IthaID: 3441
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 59 AAG>A-G | HGVS Name: | HBD:c.179delA |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CCTGATGCTGTTATGGGCAACCCTA [A/-] GGTGAAGGCTCATGGCAAGAAGGTG (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPRX
Also known as: δ0 59 (-A)
Comments: The mutation results in a frameshift leading to a premature signal in amino acid 60. Found in homozygous state presenting hypochromic microcytic red cells and complete absence of HbA2. The patient also was homozygous for the Hb Knossos [IthaID:91], which was in cis with the δ0 59 (-A) mutation. Also reported in a patient with Hb Knossos/codon 5 [−CT] and β-thalassaemia intermedia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δ-thalassaemia |
| Allele Phenotype: | δ0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63489 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Syrian, Egyptian, Tunisian, Libyan |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
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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Publications / Origin
- Olds RJ, Sura T, Jackson B, Wonke B, Hoffbrand AV, Thein SL, A novel delta 0 mutation in cis with Hb Knossos: a study of different genetic interactions in three Egyptian families., British journal of haematology, 78(3), 430-6, 1991 PubMed
- Sahli CA, Bibi A, Ouali F, Siala H, Fredj SH, Othmani R, Ouenniche F, Cheour M, Fitouri Z, Becher SB, Messaoud T, δ0-Thalassemia in cis of βKnossos globin gene: first homozygous description in thalassemia intermedia Libyans and first combination with codon 39 (C→T) in thalassemia intermedia Tunisian patients., Clin. Chem. Lab. Med., 50(10), 1743-8, 2012 PubMed
- Moassas F, Nweder MS, Murad H, Hb Knossos (HBB: c.82G > T), β-globin CD 5 (-CT) (HBB: c.17_18delCT) and δ-globin CD 59 (-a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia., BMC Pediatr, 19(1), 61, 2019 PubMed
Created on 2019-07-29 14:43:11,
Last reviewed on 2020-07-21 11:00:03 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-07-29 14:43:11 | The IthaGenes Curation Team | Created |
| 2 | 2020-07-21 11:00:03 | The IthaGenes Curation Team | Reviewed. Merged with IthaID 1337. |
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IthaGenes was last updated on 2024-11-20 13:24:07