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
405Hb G-CopenhagenβD-10Dual Kit Program44.62.91Clinically normal. Elutes together with HbA2. [PDF]
406Hb G-CopenhagenβVARIANTβ-thal Short Program40.63.74Clinically normal. Elutes together with HbA2. [PDF]
407Hb G-CopenhagenβVARIANT IIβ-thal Short Program39.23.75Clinically normal. Elutes together with HbA2. [PDF]
408Hb G-CopenhagenβVARIANT IIDual Kit Program38.82.896Clinically normal. Elutes together with HbA2. [PDF]

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. 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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.