IthaID: 3568
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 28 GCC>-CC | HGVS Name: | HBA2:c.85delG |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CACGCTGGCGAGTATGGTGCGGAG [-/G] CCCTGGAGAGGTGAGGCTCCCTCC (Strand: +)
Comments: Reported in a proband presenting with persistent microcytosis and hypochromia. The deletion of a nt G from codon 28 creates a shift in the reading frame with a premature stop codon at codon 48 (TGA). Residue 28 at the B helix of the α chain is part of the α1β1 interface, which plays a key role in the maintenance of the tertiary structure.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33860 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Moroccan |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Ropero P, Arbeteta J, Nieto JM, González FA, González B, Villegas A, Benavente C, Nondeletional α-Thalassemia: Two New Mutations on the α2 Gene., Hemoglobin, 2020
Created on 2020-02-03 11:50:47,
Last reviewed on 2022-09-20 09:28:31 (Show full history)
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