IthaID: 1109



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 92 CAC>CAA or CAG [His>Gln] HGVS Name: HBB:c.279C>A | HBB:c.279C>G
Hb Name: Hb Saint Etienne Protein Info: β 92(F8) His>Gln

Context nucleotide sequence:
CCTTTGCCACACTGAGTGAGCTGCA [A/C/G] TGTGACAAGCTGCACGTGGATCCTG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELQCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Istanbul

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71003
Size: 1 bp
Located at: β
Specific Location: Exon 2

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]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Argentinean, French, Turkish
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. 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
  2. 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 2014-06-03 16:31:40 (Show full history)

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