IthaID: 133


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 35 TAC>TAA HGVS Name: HBB:c.108C>A
Hb Name: N/A Protein Info: β 35(C1) Tyr>Stop

Context nucleotide sequence:
CCACCCTTAGGCTGCTGGTGGTCTA [A/C] CCTTGGACCCAGAGGTTCTTTGAGT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVXPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70832
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: Thai
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Frequencies

Publications / Origin

  1. Fucharoen S, Fucharoen G, Fucharoen P, Fukumaki Y, A novel ochre mutation in the beta-thalassemia gene of a Thai. Identification by direct cloning of the entire beta-globin gene amplified using polymerase chain reactions., The Journal of biological chemistry, 264(14), 7780-3, 1989
  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
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-24 16:54:48 (Show full history)

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