IthaID: 2190
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | CD 62-83 (+65 bp) | HGVS Name: | HBB:c.187_251dup |
Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The 65bp duplication first reported in a 30-year-old Ghanaian male and later in a 31-year-old African-Canadian female and her father. The duplication introduces a stop codon twenty-six amino acids further down the new reading frame leading to a truncated β chain of only 109 residues. In all 3 cases, the duplication found in association with the common δ globin variant Hb A2' [IthaID:1356] and all presented with Hb A2' variant and normal levels of HbA2. These findings support that the 65bp duplication and the δ globin variant Hb A2' are in cis.
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: | 70911 |
Size: | 65 bp |
Located at: | β |
Other details
Type of Mutation: | Duplication |
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Ethnic Origin: | Ghanaian, African-Canadian |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
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
- Frischknecht H, Dutly F, A 65 bp duplication/insertion in exon II of the beta globin gene causing beta0-thalassemia., Haematologica , 92(3), 423-4, 2007 PubMed
- Waye JS, Eng B, Hellens L, Hohenadel BA, Nakamura LM, Walker L, Normal Hb A2 β-thalassemia trait: frameshift mutation (HBB: c.187_251dup) in cis with the Hb A2' δ-globin gene missense mutation (HBD: c.49G>C)., Hemoglobin , 37(2), 201-4, 2013 PubMed
Created on 2013-09-30 17:07:53,
Last reviewed on 2022-04-12 16:40:05 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2013-09-30 17:07:53 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
3 | 2015-01-08 16:06:31 | The IthaGenes Curation Team | Reviewed. Common name corrected. |
4 | 2015-12-07 11:28:13 | The IthaGenes Curation Team | Reviewed. Mutation type corrected |
5 | 2017-01-24 12:53:57 | The IthaGenes Curation Team | Reviewed. DNA Info updated. |
6 | 2020-07-09 13:30:43 | The IthaGenes Curation Team | Reviewed. HGVS name, Chromosome and locus location corrected. Comments added. |
7 | 2020-07-09 13:32:15 | The IthaGenes Curation Team | Reviewed. |
8 | 2020-07-09 13:33:29 | The IthaGenes Curation Team | Reviewed. |
9 | 2020-07-09 13:56:15 | The IthaGenes Curation Team | Reviewed. Common name corrected. |
10 | 2021-01-20 10:04:13 | The IthaGenes Curation Team | Reviewed. Common name and locus location corrected. |
11 | 2021-10-20 15:30:06 | The IthaGenes Curation Team | Reviewed. Reference and origin added. |
12 | 2021-10-20 15:32:17 | The IthaGenes Curation Team | Reviewed. Link added. |
13 | 2022-04-12 16:40:05 | The IthaGenes Curation Team | Reviewed. Comment added. |
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IthaGenes was last updated on 2024-09-28 12:00:32