IthaID: 231
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 107 (+G) | HGVS Name: | HBB:c.323dupG |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TTATCTTCCTCCCACAGCTCCTGG [-/G] CAACGTGCTGGTCTGTGTGCTGG (Strand: -)
Comments: The G duplication at codon 107, causes a frameshift with a terminating codon at codon 139.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71897 |
| 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: | African-American, Egyptian, North African, Moroccan |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Sequence Viewer
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Frequencies
Publications / Origin
- Wong C, Dowling CE, Saiki RK, Higuchi RG, Erlich HA, Kazazian HH, Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA., Nature, 330(6146), 384-6, 1987 PubMed
- Hussein IR, Temtamy SA, el-Beshlawy A, Fearon C, Shalaby Z, Vassilopoulos G, Kazazian HH, Molecular characterization of beta-thalassemia in Egyptians., Human mutation, 2(1), 48-52, 1993 PubMed
- Wong A, Alder V, Robertson D, Papadimitriou J, Maserei J, Berdoukas V, Kontoghiorghes G, Taylor E, Baker E, Liver iron depletion and toxicity of the iron chelator deferiprone (L1, CP20) in the guinea pig., Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine, 10(4), 247-56, 1997 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-10-20 14:36:40 (Show full history)
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