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
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To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 124 | Hb Henri Mondor | β | VARIANT | β-thal Short Program | 35.7 | 2.92 | Mild microcytic anaemia. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- 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
- 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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