IthaID: 502



Names and Sequences

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

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

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALQRMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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

Comments: Reported in both HBA1 and HBA2 genes.

External Links

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

Location

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese, Malay
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

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-Honoluluα1D-10Dual Kit Program19.43.83Heterozygous. Clinically normal.[PDF]
53Hb G-Honoluluα1VARIANT IIDual Kit Program21.13.8Heterozygous. Clinically normal. Hb G-Honolulu elutes together with HbA2. [PDF]
54Hb G-Honoluluα1VARIANT IIDual Kit Program20.23.18

Sequence Viewer

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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

Microattributions

A/AContributor(s)DateComments
1Mohd Yasin, Norafiza 2020-11-24First report.
Created on 2010-06-16 16:13:15, Last reviewed on 2021-04-02 11:03:24 (Show full history)

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