IthaID: 1000
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 60 GTG>GCG [Leu>Ala] | HGVS Name: | HBB:c.182T>C |
| Hb Name: | Hb Collingwood | Protein Info: | β 60(E4) Val>Ala |
Context nucleotide sequence:
GATGCTGTTATGGGCAACCCTAAGG [T>C] GAAGGCTCATGGCAAGAAAGTGCTC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKAKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: β60 Val>Ala (both hydrophobic amino acids) results in a moderately unstable β variant and clinically silent phenotype.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
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: | N/A |
| Ethnic Origin: | Greek |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Williamson D, Brennan SO, Muir H, Carrell RW, Hemoglobin Collingwood beta 60 (E4) Val replaced by Ala. A new unstable hemoglobin., Hemoglobin, 7(6), 511-9, 1983
- Thein SL, Dominant beta thalassaemia: molecular basis and pathophysiology., Br J Haematol, 80(3), 273-7, 1992
Created on 2010-06-16 16:13:16,
Last reviewed on 2022-11-30 14:13:12 (Show full history)
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