IthaID: 48

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Init CD ATG>ATA HGVS Name: HBB:c.3G>A
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70597
Size: 1 bp
Located at: β
Specific Location: Exon 1


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: Initiation codon (Translation)
Ethnic Origin: Italian, Swedish
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Saba L, Meloni A, Sardu R, Travi M, Primignani P, Rosatelli MC, Cao A, A novel beta-thalassemia mutation (G-->A) at the initiation codon of the beta-globin gene., Human mutation, 1(5), 420-2, 1992 PubMed
  2. Landin B, Rudolphi O, Ek B, Initiation codon mutation (ATG --> ATA) of the beta-globin gene causing beta-thalassemia in a Swedish family., American journal of hematology, 48(3), 158-62, 1995 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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