IthaID: 248
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 125 (+CCA) | HGVS Name: | HBB:c.376_378dupCCA |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TTGGCAAAGAATTCACCCCACCA [-/CCA] GTGCAGGCTGCCTATCAGAAAGT (Strand: -)
Also known as:
Comments: Found in a heterozygous state in a young Armenian girl with a dominant type of beta-thal trait, characterized by a rather severe anemia (Hb 7-9 g/dl), hypochromia, target cells, basophilic stippling, and splenomegaly. Parents were unavailable for study.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | Dominant |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71950 |
| Size: | 3 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Insertion/Deletion of codons (Protein Structure) |
| Ethnic Origin: | Armenian |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| 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
- Cürük MA, Molchanova TP, Postnikov YuV , Pobedimskaya DD, Liang R, Baysal E, Kolodey S, Smetanina NS, Tokarev YuN , Rumyantsev AG, Beta-thalassemia alleles and unstable hemoglobin types among Russian pediatric patients., American journal of hematology, 46(4), 329-32, 1994 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2019-11-12 14:28:03 (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 | 2019-11-12 14:22:19 | The IthaGenes Curation Team | Reviewed. Mutation names and Location corrected. Allele, Context sequence and Comment added. |
| 4 | 2019-11-12 14:23:12 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2019-11-12 14:28:03 | The IthaGenes Curation Team | Reviewed. Common name changed. |
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IthaGenes was last updated on 2024-11-20 13:24:07