IthaID: 68
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 14 (+T) | HGVS Name: | HBB:c.44dupT |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GAAGTCTGCCGTTACTGCCCT [-/T] GTGGGGCAAGGTGAACGTGGA (Strand: -)
Also known as:
Comments: Reported in a homozygous state in beta-thalassaemia major patients. The mutation in codon 14 leads to the termination of the transcript within the same exon (codons 21-22) and subsequent activation of the NMD pathway, which degrades the mutated transcript preventing its translation.
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: | 70638 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Azerbaijani |
| 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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Frequencies
Publications / Origin
- Aliyeva G, Asadov C, Mammadova T, Musayev S, Abdulalimov E, Gafarova S, Guliyeva Y, Codon 14 (+T) (HBB: c.44_45insT): a Rare β-Thalassemia Mutation Reported Only in Azerbaijan., Hemoglobin, 42(4), 276-277, 2018 PubMed
Created on 2010-06-16 16:13:14,
Last reviewed on 2019-11-13 16:55:46 (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 | 2019-06-28 10:38:39 | The IthaGenes Curation Team | Reviewed. Reference and Comment added. |
| 4 | 2019-11-13 16:55:46 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. Allele and Context sequence added. |
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IthaGenes was last updated on 2024-11-20 13:24:07