IthaID: 147
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 41/42 (-CTTT) | HGVS Name: | HBB:c.126_129delCTTT |
| Hb Name: | N/A | Protein Info: | β 41 - 42 (-TTCT) or β 41 - 42 (-CTTT) or β 41 - 42 (-TCTT); modified C-terminal sequence |
Context nucleotide sequence:
TGGTCTACCCTTGGACCCAGAGGTT [-/CTTT] GAGTCCTTTGGGGATCTGTCCACTC (Strand: -)
Also known as: CD 41/42 (-TTCT), CD 41/42 (-TCTT)
Comments: Also reported in literature as CD 41/42 -TTCT or -TCTT, which do not follow the HGVS Sequence Variant Nomeclature recommendations.
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: | 70850 |
| Size: | 4 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Chinese, SE Asian, Indian, Thai |
| Molecular mechanism: | Altered heme pocket |
| 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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Frequencies
Publications / Origin
- Kimura A, Matsunaga E, Takihara Y, Nakamura T, Takagi Y, Lin S, Lee H, Structural analysis of a beta-thalassemia gene found in Taiwan., The Journal of biological chemistry, 258(5), 2748-9, 1983 PubMed
- Kazazian HH, Orkin SH, Antonarakis SE, Sexton JP, Boehm CD, Goff SC, Waber PG, Molecular characterization of seven beta-thalassemia mutations in Asian Indians., The EMBO journal, 3(3), 593-6, 1984 PubMed
- Panyasai S, Satthakarn S, Pornprasert S, Complex Interaction of Hb Q-Thailand (HBA1: c.223G>C) with β-Thalassemia/Hb E (HBB: c.79G>A) Disease., Hemoglobin, 42(1), 54-57, 2018 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-12-15 11:47:43 (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 | 2014-04-11 09:53:09 | The IthaGenes Curation Team | Reviewed. Corrected mutation size |
| 4 | 2014-04-24 16:05:19 | The IthaGenes Curation Team | Reviewed. Added ClinVar link. |
| 5 | 2015-01-19 15:17:00 | The IthaGenes Curation Team | Reviewed. Common name and HGVS name updated. |
| 6 | 2015-01-19 15:18:17 | The IthaGenes Curation Team | Reviewed. Protein name updated. |
| 7 | 2019-09-27 12:55:17 | The IthaGenes Curation Team | Reviewed. Reference, Origin and DNA info added. |
| 8 | 2019-11-04 13:59:20 | The IthaGenes Curation Team | Reviewed. Protein name added. |
| 9 | 2019-11-21 17:04:51 | The IthaGenes Curation Team | Reviewed. Common/HGVS names and Location corrected. Comment added. |
| 10 | 2021-12-15 11:47:43 | The IthaGenes Curation Team | Reviewed. Other names added. |
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IthaGenes was last updated on 2024-11-20 13:24:07