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:
GTGAACGTGGATGAAGTTGGTGGTG [A/C/G/T] GGCCCTGGGCAGGTTGGTATCAAGG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGVALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

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: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

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: Missense codons (Protein Structure)
Ethnic Origin: African
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
124Hb Henri MondorβVARIANTβ-thal Short Program35.72.92Mild microcytic anaemia.[PDF]

In silico pathogenicity prediction

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
  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
Created on 2010-06-16 16:13:16, Last reviewed on 2024-03-07 10:53:14 (Show full history)

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