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 |
Context nucleotide sequence:
CCAGAGGTTCTTTGAGTCCTTTGGG [G/A] ATCTGTCCACTCCTGATGCTGTTAT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGNLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
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: | 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
Disclaimer: The HPLC images are provided as an information resource only.
Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes.
D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission.
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
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.
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
Created on 2010-06-16 16:13:16,
Last reviewed on 2023-03-21 14:57:40 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
3 | 2023-03-21 14:57:40 | The IthaGenes Curation Team | Reviewed. Link added |
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IthaGenes was last updated on 2024-12-11 16:14:34