IthaID: 721



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 116-117 +15 bp [+His-Leu-Pro-Ala-Glu] HGVS Name: HBA1:p.Glu117_Phe118insHisLeuProAlaGlu | HBA2:p.Glu117_Phe118insHisLeuProAlaGlu
Hb Name: Hb Zaïre Protein Info: His-Leu-Pro-Ala-Glu- inserted between codons 116(GH4) and 117(GH5) of α1 or α2

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34386 or 38197
Size: 15 bp or 15 bp
Located at: α1 or α2
Specific Location: Exon 3

Phenotype

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

Other details

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

Sequence Viewer

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Publications / Origin

  1. Wajcman H, Blouquit Y, Vasseur C, Le Querrec A, Laniece M, Melevendi C, Rasore A, Galacteros F, Two new human hemoglobin variants caused by unusual mutational events: Hb Zaïre contains a five residue repetition within the alpha-chain and Hb Duino has two residues substituted in the beta-chain., Human genetics, 89(6), 676-80, 1992 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 17:44:17 (Show full history)

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