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
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
- 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
- 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
Created on 2019-07-29 14:43:11,
Last reviewed on 2020-07-21 11:00:03 (Show full history)
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