IthaID: 51
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 2-4 (-9 bp, +31 bp) | HGVS Name: | HBB:c.7_15delinsCCTGAGGTGAAGTCTGCCTGAGGAGAAGTCT |
| Hb Name: | N/A | Protein Info: | β 2(NA2) - 4(A1) His-Leu-Thr->0 AND beta 2(+CCTGAGGTGAAGTCTGCCTGAGGAGAAGTCT); modified C-terminal sequence: (2)Pro-Glu-Val-Lys-Ser-(7)Ala-COOH |
Context nucleotide sequence:
AACAGACACCATGGTGC [CATCTGACT/CCTGAGGTGAAGTCTGCCTGAGGAGAAGTCT ] CTCCTGAGGAGAAGTCT (Strand: -)
Also known as:
Comments: Found as a compound heterozygote with Hb S in twins of an Algerian family living in Southern France.
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: | 70601 |
| Size: | 9 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Algerian |
| 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
- Badens C, Thuret I, Michel G, Krawczak M, Mattei JF, Lena-Russo D, Labie D, Elion J, Novel and unusual deletion-insertion thalassemic mutation in exon 1 of the beta-globin gene., Human mutation, 8(1), 89-92, 1996 PubMed
Created on 2010-06-16 16:13:14,
Last reviewed on 2021-05-26 12:06:10 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:14 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-08 12:07:49 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2015-12-07 12:15:12 | The IthaGenes Curation Team | Reviewed. Mutation type updated |
| 5 | 2019-11-07 11:38:59 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. |
| 6 | 2019-11-07 12:57:47 | The IthaGenes Curation Team | Reviewed. Type of mutation changed. |
| 7 | 2021-05-26 12:05:02 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. Size, chromosome and locus location corrected. |
| 8 | 2021-05-26 12:06:10 | The IthaGenes Curation Team | Reviewed. Effect on gene added. |
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IthaGenes was last updated on 2024-11-20 13:24:07