IthaID: 2963



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 7 GAG>GTG [Glu>Val] HGVS Name: HBB:c.23A>T
Hb Name: Hb Haaglanden Protein Info: β 7(A4) Glu>Val

Protein sequence:
MVHLTPEVKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Comments: The amino acid substitution of this variant is identical to that of Hb S, but shifted of a single amino-acid position. It is negative on both the solubility and sickle tests.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70617
Size: 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:Silent Hb
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: North African
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

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. Harteveld CL, Ponjee G, Bakker-Verweij M, Arkesteijn SG, Phylipsen M, Giordano PC, Hb Haaglanden: a new nonsickling β7Glu>Val variant. Consequences for basic diagnostics, screening, and risk assessment when dealing with HbS-like variants., Int J Lab Hematol , 34(5), 551-5, 2012 PubMed
Created on 2016-08-23 14:22:52, Last reviewed on 2016-08-24 15:01:52 (Show full history)

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