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
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
- Thein SL, Dominant beta thalassaemia: molecular basis and pathophysiology., Br J Haematol, 80(3), 273-7, 1992
Created on 2010-06-16 16:13:15,
Last reviewed on 2022-11-30 12:58:47 (Show full history)
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