IthaID: 107



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS I-5 (G>C) HGVS Name: HBB:c.92+5G>C
Hb Name: N/A Protein Info: β nt 147 G>C

Context nucleotide sequence:
TGGTGGTGAGGCCCTGGGCAGGTTG [A/C/G/T] TATCAAGGTTACAAGACAGGTTTAA (Strand: -)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70691
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: Consensus splice site (mRNA Processing)
Ethnic Origin: Asian Indian, SE Asian, Melanesian, Pakistani
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. Treisman R, Orkin SH, Maniatis T, Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes., Nature, 302(5909), 591-6, 1983 PubMed
  2. Kazazian HH, Orkin SH, Antonarakis SE, Sexton JP, Boehm CD, Goff SC, Waber PG, Molecular characterization of seven beta-thalassemia mutations in Asian Indians., The EMBO journal, 3(3), 593-6, 1984 PubMed
  3. Hill AV, Bowden DK, O'Shaughnessy DF, Weatherall DJ, Clegg JB, Beta thalassemia in Melanesia: association with malaria and characterization of a common variant (IVS-1 nt 5 G----C)., Blood, 72(1), 9-14, 1988 PubMed
  4. Kulozik AE, Bail S, Kar BC, Serjeant BE, Serjeant GE, Sickle cell-beta+ thalassaemia in Orissa State, India., British journal of haematology, 77(2), 215-20, 1991 PubMed
  5. Divoky V, Bissé E, Wilson JB, Gu LH, Wieland H, Heinrichs I, Prior JF, Huisman TH, Heterozygosity for the IVS-I-5 (G-->C) mutation with a G-->A change at codon 18 (Val-->Met; Hb Baden) in cis and a T-->G mutation at codon 126 (Val-->Gly; Hb Dhonburi) in trans resulting in a thalassemia intermedia., Biochimica et biophysica acta, 1180(2), 173-9, 1992 PubMed
  6. Yasmeen H, Toma S, Killeen N, Hasnain S, Foroni L, The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population., Eur J Med Genet , 59(8), 355-62, 2016 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2016-09-02 14:25:45 (Show full history)

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