IthaID: 3253
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 88 CTG>--G | HGVS Name: | HBB:c.265_266del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: | HBB:c.265_266delCT |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Patient presented with α microcytic hypochromic phenotype. The mutation generates a stop codon two amino acids further (p.Leu89Glufs*2).
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70989 |
| Size: | 2 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Senegalese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Gueye Tall F, Martin C, Malick Ndour EH, Déme Ly I, Renoux C, Chillotti L, Veyrenche N, Connes P, Madieye Gueye P, Ndiaye Diallo R, Lacan P, Diagne I, Amadou Diop P, Cissé A, Lopez Sall P, Joly P, Genetic Background of the Sickle Cell Disease Pediatric Population of Dakar, Senegal, and Characterization of a Novel Frameshift β-Thalassemia Mutation [HBB: c.265_266del; p.Leu89Glufs*2]., Hemoglobin , 41(2), 89-95, 2017
Created on 2017-08-22 12:06:55,
Last reviewed on 2018-02-27 18:04:27 (Show full history)
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