IthaID: 101



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS I-1 G>A HGVS Name: HBB:c.92+1G>A
Hb Name: N/A Protein Info: β nt 143 G>A

Context nucleotide sequence:
AAGTTGGTGGTGAGGCCCTGGGCAG [A/G/T] TTGGTATCAAGGTTACAAGACAGGT (Strand: -)

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70687
Size: 1 bp
Located at: β
Specific Location: Intron 1

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: Splice junction (mRNA Processing)
Ethnic Origin: Mediterranean
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. Orkin SH, Kazazian HH, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJ, Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster., Nature, 296(5858), 627-31, 1982 PubMed
  2. Oner R, Altay C, Gurgey A, Aksoy M, Kilinç Y, Stoming TA, Reese AL, Kutlar A, Kutlar F, Huisman TH, Beta-thalassemia in Turkey., Hemoglobin, 14(1), 1-13, 1990 PubMed
  3. Baysal E, Indrak K, Bozkurt G, Berkalp A, Aritkan E, Old JM, Ioannou P, Angastiniotis M, Droushiotou A, Yüregir GT, The beta-thalassaemia mutations in the population of Cyprus., British journal of haematology, 81(4), 607-9, 1992 PubMed
  4. Benito A, Villegas A, Perez-Cano R, Bernal R, Beta-thalassaemia in south-western Spain: high frequency of G-->A (IVS I-1) mutation., Br. J. Haematol. , 92(2), 336-8, 1996 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2014-05-14 16:42:45 (Show full history)

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