IthaID: 960
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 47 GAT>AAT [Asp>Asn] | HGVS Name: | HBB:c.142G>A |
| Hb Name: | Hb G-Copenhagen | Protein Info: | β 47(CD6) Asp>Asn |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CCAGAGGTTCTTTGAGTCCTTTGGG [G/A] ATCTGTCCACTCCTGATGCTGTTAT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGNLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70866 |
| 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: | American | African | Danish | Sicilian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
HPLC
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Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc.
To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 405 | Hb G-Copenhagen | β | D-10 | Dual Kit Program | 44.6 | 2.91 | Clinically normal. Elutes together with HbA2. | [PDF] | |
| 406 | Hb G-Copenhagen | β | VARIANT | β-thal Short Program | 40.6 | 3.74 | Clinically normal. Elutes together with HbA2. | [PDF] | |
| 407 | Hb G-Copenhagen | β | VARIANT II | β-thal Short Program | 39.2 | 3.75 | Clinically normal. Elutes together with HbA2. | [PDF] | |
| 408 | Hb G-Copenhagen | β | VARIANT II | Dual Kit Program | 38.8 | 2.896 | Clinically normal. Elutes together with HbA2. | [PDF] |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
- Sick K, Beale D, Irvine D, Lehmann H, Goodall PT, MacDougall S, Haemoglobin G Copenhagen and haemoglobin J Cambridge. Two new beta-chain variants of haemoglobin A., Biochimica et biophysica acta, 140(2), 231-42, 1967 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2023-03-21 14:57:40 (Show full history)
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