IthaID: 2200



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS II-765 L1 insertion HGVS Name: HBB:c.316-86_316-85insCTGCTTTTATTTT
Hb Name: N/A Protein Info: β nts CTGCTTTTATTTT inserted between nts 1260 and 1261

Comments: Insertion of the full-length transposable element LINE-1 (L1) into the intron-2 of the β-globin gene. The transcript level of the affected β-globin gene was severely reduced.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71804
Size: 13 bp
Located at: β
Specific Location: Intron 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Ukrainian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. Lanikova L, Kucerova J, Indrak K, Divoka M, Issa JP, Papayannopoulou T, Prchal JT, Divoky V, β-Thalassemia Due to Intronic LINE-1 Insertion in the β-Globin Gene (HBB): Molecular Mechanisms Underlying Reduced Transcript Levels of the β-GlobinL1 Allele., Hum. Mutat. , 34(10), 1361-5, 2013 PubMed
Created on 2013-10-01 17:12:03, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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