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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
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 PubMed
- 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 PubMed
- 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 PubMed
- 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 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2024-02-13 12:30:10 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-06-03 16:31:40 | The IthaGenes Curation Team | Reviewed. Additional reference, synonym and ClinVar links added. |
| 4 | 2023-06-09 13:26:07 | The IthaGenes Curation Team | Reviewed. HGVS name and DNA info corrected. Comments and References added. |
| 5 | 2023-06-09 13:40:12 | The IthaGenes Curation Team | Reviewed. Reference added |
| 6 | 2024-02-13 12:30:10 | The IthaGenes Curation Team | Reviewed. ClinVar corrected. |
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.
IthaGenes was last updated on 2024-11-20 13:24:07