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 |
Context nucleotide sequence:
TTATCTTCCTCCCACAGCTCCTGG [-/G] CAACGTGCTGGTCTGTGTGCTGG (Strand: -)
Also known as:
Comments: The G duplication at codon 107, causes a frameshift with a terminating codon at codon 139.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
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)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2019-11-12 16:01:01 | The IthaGenes Curation Team | Reviewed. HGVS name and Location corrected. |
| 4 | 2019-11-12 16:03:33 | The IthaGenes Curation Team | Reviewed. Comment added. |
| 5 | 2021-10-20 14:36:40 | The IthaGenes Curation Team | Reviewed. Common name corrected. Reference and link added. |
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IthaGenes was last updated on 2024-11-20 13:24:07