IthaID: 433

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 1 GTG>GAG [Val>Glu] HGVS Name: HBA1:c.5T>A | HBA2:c.5T>A
Hb Name: Hb Thionville Protein Info: α2 or α1 1(NA1) Val>Glu

Context nucleotide sequence:

Protein sequence:


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33780 or 37584
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 1


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: Decreased Oxygen Affinity
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: French
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Vasseur C, Blouquit Y, Kister J, Promé D, Kavanaugh JS, Rogers PH, Guillemin C, Arnone A, Galacteros F, Poyart C, Hemoglobin Thionville. An alpha-chain variant with a substitution of a glutamate for valine at NA-1 and having an acetylated methionine NH2 terminus., J. Biol. Chem. , 267(18), 12682-91, 1992 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-18 13:27:03 (Show full history)

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