IthaID: 91



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 27 GCC>TCC [Ala>Ser] HGVS Name: HBB:c.82G>T
Hb Name: Hb Knossos Protein Info: β 27(B9) Ala>Ser

Context nucleotide sequence:
GAACGTGGATGAAGTTGGTGGTGAG [A/C/G/T] CCCTGGGCAGGTTGGTATCAAGGTT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGESLGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70676
Size: 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:β+
Thalassaemia
Stability: N/A
Oxygen Affinity: Decreased Oxygen Affinity
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Cryptic splice site (mRNA Processing), Missense codons (Protein Structure)
Ethnic Origin: Mediterranean, Algerian, Egyptian, Jordan, Tunisian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. Arous N, Galacteros F, Fessas P, Loukopoulos D, Blouquit Y, Komis G, Sellaye M, Boussiou M, Rosa J, Structural study of hemoglobin Knossos, beta 27 (B9) Ala leads to Ser. A new abnormal hemoglobin present as a silent beta-thalassemia., FEBS letters, 147(2), 247-50, 1982 PubMed
  2. Fessas P, Loukopoulos D, Loutradi-Anagnostou A, Komis G, 'Silent' beta-thalassaemia caused by a 'silent' beta-chain mutant: the pathogenesis of a syndrome of thalassaemia intermedia., British journal of haematology, 51(4), 577-83, 1982 PubMed
  3. Orkin SH, Antonarakis SE, Loukopoulos D, Abnormal processing of beta Knossos RNA., Blood, 64(1), 311-3, 1984 PubMed
  4. Baklouti F, Dorléac E, Morlé L, Laselve P, Peyramond D, Aubry M, Godet J, Delaunay J, Homozygous hemoglobin Knossos (alpha 2 beta 227(B9) Ala----Ser): a new variety of beta (+)-thalassemia intermedia associated with delta (0)-thalassemia., Blood, 67(4), 957-61, 1986 PubMed
  5. Olds RJ, Sura T, Jackson B, Wonke B, Hoffbrand AV, Thein SL, A novel delta 0 mutation in cis with Hb Knossos: a study of different genetic interactions in three Egyptian families., British journal of haematology, 78(3), 430-6, 1991 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2014-04-23 12:27:17 (Show full history)

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