IthaID: 3569
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 89-93 (-13bp): (-CACAAGCTTCGGG) | HGVS Name: | HBA2:c.268_280delCACAAGCTTCGGG |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CTGTCCGCCCTGAGCGACCTGCACGCG [-/CACAAGCTTCGGG] TGGACCCGGTCAACTTCAAGGTGAGC (Strand: +)
Also known as:
Comments: Reported in a proband presenting with persistent microcytosis and hypochromia. The deletion of 13 bp creates a frameshift in the reading frame with a premature stop codon at codon 97 (TAA). Codons 89-93 constitute the region between FG helices, which affects the α1β1 interaction and the maintenance of the tertiary structure.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 34160 |
| Size: | 13 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
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 11:52:59,
Last reviewed on 2022-09-20 09:29:28 (Show full history)
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