IthaID: 171
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 62-64 (-7bp) | HGVS Name: | HBB:c.189_195delTCATGGC |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GGGCAACCCTAAGGTGAAGGC [TCATGGC/-] AAGAAAGTGCTCGGTGCCTTT (Strand: -)
Also known as:
Comments: The 7bp deletion caused a shift in the normal reading frame of the β-globin coding sequence and created a stop codon at codon 87. This led to an altered β chain with only 23 residues and to a β0 thalassaemia phenotype.
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: | 70913 |
| Size: | 7 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: | Italian, Chinese |
| Molecular mechanism: | Altered heme pocket |
| 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
- He S, Lin L, Wei Y, Chen B, Yi S, Chen Q, Qiu X, Wei H, Li G, Zheng C, Identification of a Novel β-Globin Mutation (HBB: C.189_195delTCATGGC) in a Chinese Family., Hemoglobin , 40(4), 277-9, 2016 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-10-20 16:00:20 (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 | 2019-11-11 17:13:41 | The IthaGenes Curation Team | Reviewed. Mutations names and Location corrected. |
| 4 | 2021-03-09 19:28:47 | The IthaGenes Curation Team | Reviewed. Comment and Reference added. |
| 5 | 2021-10-20 15:59:30 | The IthaGenes Curation Team | Reviewed. Links added. |
| 6 | 2021-10-20 16:00:20 | The IthaGenes Curation Team | Reviewed. Chromosomal location corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07