IthaID: 960



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 47 GAT>AAT HGVS Name: HBB:c.142G>A
Hb Name: Hb G-Copenhagen Protein Info: β 47(CD6) Asp>Asn

Context nucleotide sequence:
CCAGAGGTTCTTTGAGTCCTTTGGG [A/C/G/T] ATCTGTCCACTCCTGATGCTGTTAT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGNLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70866
Size: 1 bp
Located at: β
Specific Location: Exon 2

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: American | African | Danish | Sicilian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

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]
408Hb G-CopenhagenβVARIANT IIDual Kit Program38.82.896Clinically 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]

Sequence Viewer

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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 2013-10-15 17:00:14 (Show full history)

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