IthaID: 721



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 116-117 +15 bp [+His-Leu-Pro-Ala-Glu] HGVS Name: HBA1:c.337_351dup | HBA2:c.337_351dup
Hb Name: Hb Zaïre Protein Info: His-Leu-Pro-Ala-Glu- inserted between codons 116(GH4) and 117(GH5) of α1 or α2

Also known as:

Comments: The 15bp duplication found in a 36-year-old patient from Zaire, involving 5 tandemly repeated amino acids.

External Links

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34371 or 38182
Size: 15 bp or 15 bp
Located at: α1 or α2
Specific Location: Exon 3

Other details

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

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 2020-05-04 13:06:14 (Show full history)

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