IthaID: 211



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS II-654 C>T HGVS Name: HBB:c.316-197C>T
Hb Name: N/A Protein Info: β nt 1149 C>T

Context nucleotide sequence:
AACAGTGATAATTTCTGGGTTAAGG [C/T] AATAGCAATATCTCTGCATATAAAT (Strand: -)

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71693
Size: 1 bp
Located at: β
Specific Location: Intron 2

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0 / β+
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)
Ethnic Origin: Chinese, SE Asian, Japanese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. Cheng TC, Orkin SH, Antonarakis SE, Potter MJ, Sexton JP, Markham AF, Giardina PJ, Li A, Kazazian HH, beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects., Proceedings of the National Academy of Sciences of the United States of America, 81(9), 2821-5, 1984 PubMed
  2. Takihara Y, Matsunaga E, Nakamura T, Lin S, Lee H, Fukumaki Y, Takagi Y, One base substitution in IVS-2 causes a beta +-thalassemia phenotype in a Chinese patient., Biochemical and biophysical research communications, 121(1), 324-30, 1984 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-24 16:08:23 (Show full history)

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