IthaID: 1109
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 92 CAC>CAG [His>Gln] | HGVS Name: | HBB:c.279C>G |
| Hb Name: | Hb Saint Etienne | Protein Info: | β 92(F8) His>Gln |
Context nucleotide sequence:
CCTTTGCCACACTGAGTGAGCTGCA [A>G] TGTGACAAGCTGCACGTGGATCCTG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELQCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as: Hb Istanbul
Comments: A histidine (His) to glutamine (Gln) change in the proximal position of the β chain (F8(92)) detected by amino acid analysis in individuals with unstable hemoglobin hemolytic anemia.
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: | Increased Oxygen Affinity |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71003 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Argentinean, French, Turkish |
| Molecular mechanism: | Altered heme pocket |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Aksoy M, Erdem S, Efremov GD, Wilson JB, Huisman TH, Schroeder WA, Shelton JR, Shelton JB, Ulitin ON, Müftüoğlu A, Hemoglobin Istanbul: substitution of glutamine for histidine in a proximal histidine (F8(92) )., The Journal of clinical investigation, 51(9), 2380-7, 1972
- Godeau JF, Beuzard YG, Cacheleux J, Brizard CP, Gibaud A, Rosa J, Association of hemoglobin Saint Etienne (alpha2beta295F8 His replaced by G1n) with hemoglobins A and F. Synthesis and subunit exchange in vitro., J Biol Chem, 251(14), 4346-54, 1976
- Aksoy M, Erdem S, Differences between individuals with hemoglobins Istanbul and Saint-Etienne (alpha 2 beta 2 92F8 His replaced by Gln)., Acta Haematol, 61(5), 295-7, 1979
- de Weinstein BI, Plaseska-Karanfilska D, Efremov GD, Hb Saint Etienne or Hb Istanbul [beta92(F8)His-->Gln] found in an Argentinean family., Hemoglobin , 24(2), 149-52, 2000
Created on 2010-06-16 16:13:16,
Last reviewed on 2024-02-13 12:30:10 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.