IthaID: 1257
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 132 AAA>CAA [Lys>Gln] | HGVS Name: | HBB:c.397A>C |
| Hb Name: | Hb K Woolwich | Protein Info: | β 132(H10) Lys>Gln |
Context nucleotide sequence:
CCCACCAGTGCAGGCTGCCTATCAG [A/C/G/T] AAGTGGTGGCTGGTGTGGCTAATGC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQQVVAGVANALAHKYH
Also known as:
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: | 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: | 71971 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | African |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | No |
HPLC
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To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 141 | Hb K Woolwich | β | D-10 | Dual Kit Program | 33.5 | 0.65 | |||
| 142 | Hb K Woolwich | β | VARIANT | β-thal Short Program | 35.2 | 1.29 | Clinically and hematologically normal. | [PDF] | |
| 143 | Hb K Woolwich | β | VARIANT II | β-thal Short Program | 34.4 | 1.29 | Clinically and hematologically normal. | [PDF] | |
| 144 | Hb K Woolwich | β | VARIANT II | Dual Kit Program | 37.2 | 0.859 | Clinically and hematologically normal. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Ringelhann B, Konotey-Ahulu FI, Talapatra NC, Nkrumah FK, Wiltshire BG, Lehmann H, Haemoglobin K Woolwich (alpha 2, beta 2 132 lysine leads to glutamine) in Ghana., Acta haematologica, 45(4), 250-8, 1971
- Cabannes R, Amegnizin P, Sangare A, Arne D, Casey R, Lehmann H, Haemoglobin K Woolwich: a study of the family of a homozygote., J. Med. Genet. , 17(3), 183-6, 1980
Created on 2010-06-16 16:13:17,
Last reviewed on 2014-05-09 09:17:17 (Show full history)
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