IthaID: 257



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 128/129 (-4, +5, -11 bp) >153aa HGVS Name: HBB:c.[385_388delinsCCACA;397_407delAAAGTGGTGGC]
Hb Name: N/A Protein Info: β 128-129 (-GCTG); modified C-terminal sequence AND beta 132 - 135 (-AAAGTGGTGGC); modified C-terminal sequence AND beta 128(+CCACA); modified C-terminal sequence

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71959
Size: 11 bp
Located at: β
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:β0
Dominant
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Irish
Inheritance: Dominant
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Weatherall DJ, Clegg JB, Knox-Macaulay HH, Bunch C, Hopkins CR, Temperley IJ, A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia., Br. J. Haematol. , 24(6), 681-702, 1973 PubMed
  2. Thein SL, Winichagoon P, Hesketh C, Best S, Fucharoen S, Wasi P, Weatherall DJ, The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis., American journal of human genetics, 47(3), 369-75, 1990 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2015-12-07 12:17:48 (Show full history)

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