IthaID: 196

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 95 (+A) HGVS Name: HBB:c.287dupA
Hb Name: N/A Protein Info: β 95(+A); modified C-terminal sequence: (95)Lys-Ala-Ala-Arg-Gly-Ser-(101)COOH

Context nucleotide sequence:

Also known as:

Comments: Found in one Thai beta-thalassemia/HbE patient [PMID: 1515453]. Found in two Vietnamese families. Found in a heterozygous state in the mother and in combination with a β0 allele (codon 17 nonsense) in her four children in the first family. Found in a heterozygous state in the father and in combination with Hb E in one child in the second family. The introduction of a nt A in codon 95 (AAG>AAAG), or between codons 94 (GAC) and 95 (AAG), changes the reading frame with termination of translation at codon 101 (TGA).


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71011
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Thai | Vietnamese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Winichagoon P, Fucharoen S, Wilairat P, Chihara K, Fukumaki Y, Wasi P, Identification of five rare mutations including a novel frameshift mutation causing beta zero-thalassemia in Thai patients with beta zero-thalassemia/hemoglobin E disease., Biochimica et biophysica acta, 1139(4), 280-6, 1992 PubMed
  2. Cai S, Chehab FF, New frameshift mutation, insertion of A, at codon 95 of the beta-globin gene causes beta-thalassemia in two Vietnamese families., Human mutation, 8(3), 293-4, 1996 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2019-11-12 10:38:25 (Show full history)

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