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 |
| Also known as: | δ0 59 (-A) |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CCTGATGCTGTTATGGGCAACCCTA [A/-] GGTGAAGGCTCATGGCAAGAAGGTG (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPRX
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.
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
Sequence Viewer
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Frequencies
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)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.