IthaID: 502



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 30 GAG>CAG [Glu>Gln] HGVS Name: NM_000558.5(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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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

In silico pathogenicity prediction

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

Microattributions

A/AContributor(s)DateComments
1Mohd Yasin, Norafiza 2020-11-24Report of an update.
Created on 2010-06-16 16:13:15, Last reviewed on 2024-04-12 09:50:40 (Show full history)

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