IthaID: 124



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: IVS I [3' end] (+22bp) HGVS Name: NG_000007.3:g.70807_70828dup
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The duplication found in heterozygosity with Hb E. The 22bp tandem duplication around the intron 1/exon 2 boundary, resulting in a premature stop codon. The deduced amino acid sequence yielded only 37-residue peptide.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70807
Size: 22 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(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Thai
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Rojnuckarin P, Settapiboon R, Vanichsetakul P, Sueblinvong T, Sutcharitchan P, Severe beta(0) thalassemia/hemoglobin E disease caused by de novo 22-base pair duplication in the paternal allele of beta globin gene., American journal of hematology, 82(7), 663-5, 2007 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2020-05-04 12:58:11 (Show full history)

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