IthaID: 893



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 26 GAG>GGG HGVS Name: HBB:c.80A>G
Hb Name: Hb Aubenas Protein Info: β 26(B8) Glu>Gly

Context nucleotide sequence:
GTGAACGTGGATGAAGTTGGTGGTG [A>G] GGCCCTGGGCAGGTTGGTATCAAGG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGGALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Found in a proband of French origin and in one of her two siblings without haematological or clinical features. Parents refused testing. Blood smears showed anisocytosis. The abnormal Hb was revealed by isoelectrofocusing (IEF), cellulose acetate electrophoresis and cation exchange HPLC. Slightly unstable as detected by the isopropanol test. Normal α/β biosynthetic ratio. In contrast to HbE (HBB:c.79G>A), this base substitution does not lead to a consensus nt sequence for splicing.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70674
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: French, Iranian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Lacan P, Francina A, Promé D, Delaunay J, Galactéros F, Wajcman H, Hb Aubenas [beta 62(B8)Glu-->Gly]: a new variant normally synthesized, affecting the same codon as in Hb E., Hemoglobin, 20(2), 113-24, 1996 PubMed
  2. Jalilian M, Azizi Jalilian F, Ahmadi L, Amini R, Esfehani H, Sosanian M, Rabbani B, Maleki M, Mahdieh N, The Frequency of HBB Mutations Among β-Thalassemia Patients in Hamadan Province, Iran., Hemoglobin, 41(1), 61-64, 2017 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2020-09-28 16:20:30 (Show full history)

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