IthaID: 668



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 92 CGG>CAG [Arg>Gln] HGVS Name: HBA1:c.278G>A | HBA2:c.278G>A
Hb Name: Hb J-Cape Town Protein Info: α2 or α1 92(FG4) Arg>Gln

Context nucleotide sequence:
AGCGACCTGCACGCGCACAAGCTTC [A/C/G/T] GGTGGACCCGGTCAACTTCAAGGTG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLQVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34170 or 37973
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: Increased 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: Japanese, South African
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Botha MC, Beale D, Isaacs WA, Lehmann H, Hemoglobin J Cape Town-alpha-2 92 arginine replaced by glutamine beta-2., Nature , 212(5064), 792-5, 1966 PubMed
  2. Ogawa S, Shulman RG, Kynoch PA, Lehmann H, High resolution nuclear magnetic resonance studies of haemoglobin J Capetown., Nature , 225(5237), 1042-3, 1970 PubMed
  3. Charache S, Jenkins T, Oxygen equilibrium of hemoglobin J Cape Town., J. Clin. Invest. , 50(7), 1554-5, 1971 PubMed
  4. Nagel RL, Gibson QH, Jenkins T, Ligand binding in hemoglobin J Capetown., J. Mol. Biol. , 58(3), 643-50, 1971 PubMed
  5. Botha MC, Stathopoulou R, Lehmann H, Rees JS, Plowman D, A Hb J Cape Town homozygote--association of Hb J Cape Town and alpha-thalassaemia., FEBS Lett. , 96(2), 331-4, 1978 PubMed
  6. Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994 PubMed
  7. Pagano L, Flagiello A, Tedesco R, Ammirabile M, Pollio F, Prossomariti L, Giambona A, Passarello C, Pucci P, Hb J-Cape Town [alpha92(FG4)Arg-->Gln (alpha1), CGG-->CAG] in Southern Italy found in a patient with erythrocytosis., Hemoglobin , 31(2), 113-20, 2007 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 11:38:36 (Show full history)

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