IthaID: 1100



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 93-97 (-15 bp) HGVS Name: HBB:c.280_294delTGTGACAAGCTGCAC
Hb Name: Hb Gun Hill | Hb GH Protein Info: β 91(F7) - 95(FG2) Leu-His-Cys-Asp-Lys->0

Context nucleotide sequence:
TTTGCCACACTGAGTGAGCTGCAC [-/TGTGACAAGCTGCAC] GTGGATCCTGAGAACTTCAGGGTGA (Strand: -)

Also known as:

Comments: Found in a heterozygous state in two members of a family with German and English ancestry, and presenting with mild compensated haemolysis. Found as a heterozygote in an assymptomatic black female living in Alabama; her parents and siblings did not carry the variant. The deleted residues occur in a region involved in heme-globin binding. The β-chains of Hb Gun Hill lack heme groups. Reported in literature as HBB:c.274_288del (α2β2 codons 91-95 deleted), which does not follow the HGVS Sequence Variant Nomeclature recommendations.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71004
Size: 15 bp
Located at: β
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Insertion/Deletion of codons (Protein Structure)
Ethnic Origin: English, German, African
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Bradley TB, Wohl RC, Rieder RF, Hemoglobin Gun Hill: deletion of five amino acid residues and impaired heme-globin binding., Science (New York, N.Y.), 157(796), 1581-3, 1967 PubMed
  2. Rieder RF, Synthesis of hemoglobin Gun Hill: increased synthesis of the heme-free beta-GH globin chain and subunit exchange with a free alpha-chain pool., J. Clin. Invest., 50(2), 388-400, 1971 PubMed
  3. Murari J, Smith LL, Wilson JB, Schneider RG, Huisman TH, Some properties of hemoglobin Gun Hill., Hemoglobin, 1(3), 267-82, 1977 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2019-11-07 15:31:33 (Show full history)

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