IthaID: 192


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 90 GAG>TAG HGVS Name: HBB:c.271G>T
Hb Name: N/A Protein Info: β 90(F6) Glu>Stop

Context nucleotide sequence:
CAAGGGCACCTTTGCCACACTGAGT [A/G/T] AGCTGCACTGTGACAAGCTGCACGT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSXLHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70995
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Japanese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Frequencies

Publications / Origin

  1. Fucharoen S, Katsube T, Fucharoen G, Sawada H, Oishi H, Katsuno M, Nishimura J, Motomura S, Miura Y, Fukumaki Y, Molecular heterogeneity of beta-thalassaemia in the Japanese: identification of two novel mutations., British journal of haematology, 74(1), 101-7, 1990
  2. Hattori Y, Yamamoto K, Yamashiro Y, Ohba Y, Miyamura S, Yamamoto K, Matsuno Y, Morishita M, Miyaji T, Era T, Three beta-thalassemia mutations in the Japanese: IVS-II-1 (G----A), IVS-II-848 (C----G), and codon 90 (GAG----TAG)., Hemoglobin, 16(1), 93-7, 1992
  3. Aldemir O, Izmirli M, Kaya H, The Spectrum of β-Thalassemia Mutations in Hatay, Turkey: Reporting Three New Mutations., Hemoglobin , 38(5), 325-8, 2014
Created on 2010-06-16 16:13:15, Last reviewed on 2014-10-09 16:29:00 (Show full history)

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