IthaID: 144
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
Common Name: | CD 40 (+86 bp) | HGVS Name: | HBB:c.123_208dup |
Hb Name: | N/A | Protein Info: | N/A |
Also known as: HGSA
Comments: This insertion consists of a duplication of the immediately downstream sequence, causing a frameshift and a premature stop codon. The predicted protein sequence carries the first 70 amino- acids of the normal b-globin, followed by 19 mutated aminoacids. The resulting polypeptide is thus 58 aminoacids shorter than the wild type. The boundaries of the insertion were found to carry an imperfect splicing sequence.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
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: | 70847 |
Size: | 86 bp |
Located at: | β |
Specific Location: | Exon 2 |
Other details
Type of Mutation: | Point-Mutation(Insertion) |
---|---|
Effect on Gene/Protein Function: | Frameshift (Translation) |
Ethnic Origin: | Portuguese |
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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Publications / Origin
- Cabeda JM, Correia C, Estevinho A, Simões C, Amorim ML, Pinho L, Justiça B, Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal., British journal of haematology, 105(1), 68-74, 1999 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2020-05-04 13:00:53 (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 | 2018-04-25 11:53:03 | The IthaGenes Curation Team | Reviewed. Comment and synonym added. |
4 | 2020-04-29 21:00:23 | The IthaGenes Curation Team | Reviewed. Chromosome and locus location corrected. HGVS name added. |
5 | 2020-04-30 16:27:36 | The IthaGenes Curation Team | Reviewed. Type of mutation corrected. |
6 | 2020-05-04 13:00:53 | The IthaGenes Curation Team | Reviewed. Specific location added. |
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IthaGenes was last updated on 2024-09-28 12:00:32