IthaID: 607



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 74 GAC>CAC [Asp>His] HGVS Name: HBA1:c.223G>C
Hb Name: Hb Q-Thailand Protein Info: α1 74(EF3) Asp>His

Context nucleotide sequence:
GCTGACCAACGCCGTGGCGCACGTG [A/C/G] ACGACATGCCCAACGCGCTGTCCGC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVHDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb Asabara , Hb G-Taichung , Hb Kurashiki-I , Hb Mahidol

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37919
Size: 1 bp
Located at: α1
Specific Location: Exon 2

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(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese, Thai, Japanese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

HPLC

Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.
ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
211Hb Q-Thailandα1D-10Dual Kit Program22.54.18heterozygote[PDF]
214Hb Q-Thailandα1VARIANT IIDual Kit Program23.83.644heterozygote[PDF]
212Hb Q-Thailandα1VARIANTβ-thal Short Program22.94.51heterozygote[PDF]
213Hb Q-Thailandα1VARIANT IIβ-thal Short Program86.94.38heterozygote[PDF]

Sequence Viewer

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Frequencies

Publications / Origin

  1. Blackwell RQ, Liu CS, Hemoglobin G Taichung: alpha-74 Asp leads to His., Biochim. Biophys. Acta , 200(1), 70-5, 1970 PubMed
  2. Pootrakul S, Dixon GH, Hemoglobin Mahidol: a new hemoglobin alpha-chain mutant., Can. J. Biochem. , 48(9), 1066-78, 1970 PubMed
  3. Lorkin PA, Charlesworth D, Lehmann H, Rahbar S, Tuchinda S, Eng LI, Two haemoglobins Q, alpha-74 (EF3) and alpha-75 (EF4) aspartic acid to histidine., Br. J. Haematol. , 19(1), 117-25, 1970 PubMed
  4. Iuchi I, Hidaka K, Ueda S, Shibata S, Kusumoto T, Hemoglobin G Taichung (alpha 74 aspartic acid replaced by histidine) heterozygotes found in two Japanese families., Hemoglobin , 2(1), 79-84, 1978 PubMed
  5. Lie-Injo LE, Dozy AM, Kan YW, Lopes M, Todd D, The alpha-globin gene adjacent to the gene for HbQ-alpha 74 Asp replaced by His is deleted, but not that adjacent to the gene for HbG-alpha 30 Glu replaced by Gln; three-fourths of the alpha-globin genes are deleted in HbQ-alpha-thalassemia., Blood , 54(6), 1407-16, 1979 PubMed
  6. Higgs DR, Hunt DM, Drysdale HC, Clegg JB, Pressley L, Weatherall DJ, The genetic basis of Hb Q-H disease., Br. J. Haematol. , 46(3), 387-400, 1980 PubMed
  7. Beris P, Huber P, Miescher PA, Wilson JB, Kutlar A, Chen SS, Huisman TH, HB Q-Thailand-HB H disease in a Chinese living in Geneva, Switzerland: characterization of the variant and identification of the two alpha-thalassemic chromosomes., Am. J. Hematol. , 24(4), 395-400, 1987 PubMed
  8. Chen SS, Yang KK, Jia PC, Liang CC, Zhang MJ, Huang MX, Zhang GL, Wen PC, Du SK, A case of -(4.2)alpha T/-(4.2) alpha Q in combination with a beta zero-thalassemia homozygosity found in a family of the Zhuang nationality in china., Hemoglobin , 16(5), 409-15, 1992 PubMed
  9. 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
Created on 2010-06-16 16:13:16, Last reviewed on 2016-08-22 10:51:38 (Show full history)

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