IthaID: 170
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 60 GTG>GAG [Val>Glu] | HGVS Name: | HBB:c.182T>A |
| Hb Name: | Hb Cagliari | Protein Info: | β 60(E4) Val>Glu |
Context nucleotide sequence:
GATGCTGTTATGGGCAACCCTAAGG [T>A] GAAGGCTCATGGCAAGAAAGTGCTC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKEKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: β60 valine (non-polar) to glutamine (polar) causes an ineffective erythropoiesis and thalassaemia 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: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70906 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| 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
- Podda A, Galanello R, Maccioni L, Melis MA, Rosatelli C, Perseu L, Cao A, Hemoglobin Cagliari (beta 60 [E4] Val----Glu): a novel unstable thalassemic hemoglobinopathy., Blood, 77(2), 371-5, 1991 PubMed
- Thein SL, Dominant beta thalassaemia: molecular basis and pathophysiology., Br J Haematol, 80(3), 273-7, 1992 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2022-11-30 12:58:47 (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 | 2022-11-30 12:58:47 | The IthaGenes Curation Team | Reviewed. Comment and Reference added. Allele info edited. |
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IthaGenes was last updated on 2024-11-20 13:24:07