IthaID: 250
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 126 (-T) >156aa | HGVS Name: | HBB:c.380delT |
| Hb Name: | Hb Vercelli | Protein Info: | β 126 (-T); modified C-terminal sequence: (126)Gly-Arg-Leu-Pro-Ile-Arg-Lys-Trp-Trp-Leu- Val-Trp-Leu-Met-Pro-Trp-Pro-Thr-Ser-Ile- Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe- (156)Tyr-COOH |
Context nucleotide sequence:
TTTGGCAAAGAATTCACCCCACCAG [-/T] GCAGGCTGCCTATCAGAAAGTGGTG (Strand: -)
Also known as:
Comments: Reported in a heterozygote with thalassemia intermedia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | Thalassaemia dominant 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: | 71954 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| 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
- Murru S, Loudianos G, Deiana M, Camaschella C, Sciarratta GV, Agosti S, Parodi MI, Cerruti P, Cao A, Pirastu M, Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations., Blood, 77(6), 1342-7, 1991 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2023-08-09 10:42:31 (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 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2023-08-09 10:42:31 | The IthaGenes Curation Team | Reviewed. Comment added |
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IthaGenes was last updated on 2024-11-20 13:24:07