IthaID: 3555
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 124 (+C) | HGVS Name: | HBB:c.374dup |
| Hb Name: | N/A | Protein Info: | p.Pro126Thrfs*15 |
Context nucleotide sequence:
CCCATCACTTTGGCAAAGAATTCACCC [-/C] ACCAGTGCAGGCTGCCTATCAGAAAG (Strand: -)
Also known as:
Comments: Single nucleotide duplication (+C) generating a frameshift that leads to shortening of the β-globin chain with a stop codon at codon 139 (TAA). Reported in a patient with severe microcytic and hypochromic anaemia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71948 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Algerian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Abdaoui W, Benouareth DE, Djenouni A, Renoux C, Grifi F, Gouri A, Athamnia F, Benalioua M, Joly P, Genetic Background of β-Thalassemia in Northeast Algeria with Assessment of the Thalassemia Severity Score and Description of a new β-Thalassemia Frameshift Mutation (: c.374dup; p.Pro126Thrfs*15)., Hemoglobin, 43(0), 223-228, 2019
Created on 2020-01-10 08:59:43,
Last reviewed on 2020-07-01 11:47:21 (Show full history)
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