IthaID: 895

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 26 GAG>GTG [Glu>Val] HGVS Name: HBB:c.80A>T
Hb Name: Hb Henri Mondor Protein Info: β 26(B8) Glu>Val

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


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: Missense codons (Protein Structure)
Ethnic Origin: African
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No


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ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
124Hb Henri MondorβVARIANTβ-thal Short Program35.72.92Mild microcytic anaemia.[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Blouquit Y, Arous N, Machado PE, Garel MC, Hb Henri Mondor: beta26 (B8) Glu leads to Val: a variant with a substitution localized at the same position as that of HbE beta26 Glu leads to Lys., FEBS letters, 72(1), 5-7, 1976 PubMed
  2. Bardakdjian J, Arous N, Kister J, Blouquit Y, Giacomini T, Lacombe C, Riou J, Hafsia R, Rosa J, Galacteros F, Further characterization of Hb Henri Mondor or alpha 2 beta 2(26)(B8)Glu----Val., Hemoglobin , 11(1), 1-11, 1987 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2024-03-07 10:53:14 (Show full history)

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