IthaID: 502



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 30 GAG>CAG [Glu>Gln] HGVS Name: HBA1:c.91G>C | HBA2:c.91G>C
Hb Name: Hb G-Honolulu Protein Info: α2 or α1 30(B11) Glu>Gln

Context nucleotide sequence:
TGGCGAGTATGGTGCGGAGGCCCTG [A/C/G] AGAGGTGAGGCTCCCTCCCCTGCTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALQRMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb G-Chinese , Hb G-Hong Kong , Hb G-Singapore

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33866 or 37670
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 1

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
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
52Hb G-Honoluluα1 or α2D-10Dual Kit Program19.43.83Heterozygous. Clinically normal.[PDF]
53Hb G-Honoluluα1 or α2VARIANT IIDual Kit Program21.13.8Heterozygous. Clinically normal. Hb G-Honolulu elutes together with HbA2. [PDF]
54Hb G-Honoluluα1 or α2VARIANT IIDual Kit Program20.23.18

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Blackwell RQ, Weng MI, Liu CS, Shih TB, Wang CL, Hemoglobin G Chinese in Chinese subjects in Taiwan., Vox Sang. , 23(4), 363-8, 1972 PubMed
  2. Liu GY, Zhang GX, Nie SY, Luo HY, Tao ZY, Zhang LY, Chen SS, Jia PC, Liang ZC, [A case of HbG Chinese found in Henan]., Zhongguo Yi Xue Ke Xue Yuan Xue Bao , 6(1), 48-50, 1984 PubMed
  3. Chang JG, Shih MC, Liu SC, Chen CM, Chan WL, Peng CT, Hb G-Chinese: a G-->C substitution at codon 30 of the alpha2-globin gene creates a PstI cutting site., Hemoglobin , 26(1), 95-7, 2002 PubMed
  4. Chang JG, Shih MC, Liu SC, Chen CM, Chan WL, Lee TP, Peng CT, Hb G-Honolulu [alpha30(B11)Glu-->Gln (alpha2)], Hb J-Meinung [beta56(D7)Gly-->Asp], and beta-thalassemia [codons 41/42 (-TCTT)] in a Taiwanese family., Hemoglobin , 26(3), 325-8, 2002 PubMed
  5. Paleari R, Caruso D, Giavarini F, Colzani C, Brunati P, Mosca A, The first case of Hb G-Honolulu [α30(B11)Glu→Gln (GAG>CAG); HBA2:c.91G>A] observed in association with Hb S [β6(A3)Glu→Val, GAG>GTG] in a healthy Italian child., Hemoglobin , 36(1), 73-9, 2012 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-13 12:59:43 (Show full history)

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