IthaID: 895



Names and Sequences

Functionality: Globin gene causative mutation
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

Location

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

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]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African
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
124Hb Henri MondorβVARIANTβ-thal Short Program35.72.92Mild microcytic anaemia.[PDF]

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 2014-05-13 11:01:54 (Show full history)

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