IthaID: 509



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 34 CTG>CGG [Leu>Arg] HGVS Name: HBA1:c.104T>G | HBA2:c.104T>G
Hb Name: Hb Queens Protein Info: α2 or α1 34(B15) Leu>Arg

Context nucleotide sequence:
TCTGCTTCTCCCCGCAGGATGTTCC [G/T] GTCCTTCCCCACCACCAAGACCTAC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFRSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb Ogi

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37800
Size: 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: Unstable
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: Chinese, Japanese, Korean, Thai, Vietnamese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Zeng YT, Huang SZ, Yen YK, Li WC, Lam H, Webber B, Wilson JB, Huisman TH, Hemoglobin Queens (alpha 34 (B15) Leu replaced by Arg) found in two Chinese families., Hemoglobin , 6(2), 209-11, 1982 PubMed
  2. Sugihara J, Imamura T, Yamada H, Imoto T, Matsuo T, Sumida I, Yanase T, A new electrophoretic variant of hemoglobin (Ogi) in which a leucine residue is replaced by an arginine residue at position 34 of the alpha-chain., Biochim. Biophys. Acta , 701(1), 45-8, 1982 PubMed
  3. Moo-Penn WF, Jue DL, Johnson MH, McGuffey JE, Simpkins H, Katz J, Hemoglobin Queens: alpha 34 (B15) Leu-Arg structural and functional properties and its association with Hb E., Am. J. Hematol. , 13(4), 323-7, 1982 PubMed
  4. Yongsuwan S, Svasti J, Fucharoen S, Decreased heat stability found in purified hemoglobin Queens [alpha 34(B15)Leu----Arg]., Hemoglobin , 11(6), 567-70, 1987 PubMed
  5. Lee NY, Cho HI, Kim SI, Kim BK, Ohba Y, Hattori Y, A family case of beta-thalassemia minor and hemoglobin Queens: alpha 34 (B15) Leu-Arg., J. Korean Med. Sci. , 7(4), 385-8, 1992 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-13 13:22:33 (Show full history)

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