IthaID: 415

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 132 GTG>GGG [Val>Gly] HGVS Name: HBA1:c.398T>G or HBA2:c.398T>G
Hb Name: Hb Caen Protein Info: α1 or α2 132(H15) Val>Gly

Context nucleotide sequence:

Protein sequence:

External Links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34432
Size: 1 bp
Located at: α1 or α2
Specific Location: Exon 3


Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α⁺
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

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

Sequence Viewer

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Publications / Origin

  1. Wajcman H, Vasseur C, Blouquit Y, Rosa J, Labie D, Najman A, Reman O, Leporrier M, Galacteros F, Unstable alpha-chain hemoglobin variants with factitious beta-thalassemia biosynthetic ratio: Hb Questembert (alpha 131[H14]Ser-->Pro) and Hb Caen (alpha 132[H15]Val-->Gly)., American journal of hematology, 42(4), 367-74, 1993 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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