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.
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.
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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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 52 | Hb G-Honolulu | α1 | D-10 | Dual Kit Program | 19.4 | 3.83 | Heterozygous. Clinically normal. | [PDF] | |
| 53 | Hb G-Honolulu | α1 | VARIANT II | Dual Kit Program | 21.1 | 3.8 | Heterozygous. Clinically normal. Hb G-Honolulu elutes together with HbA2. | [PDF] | |
| 54 | Hb G-Honolulu | α1 | VARIANT II | Dual Kit Program | 20.2 | 3.18 |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- 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
- 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
- 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
- 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
- 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/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Mohd Yasin, Norafiza | 2020-11-24 | Report of an update. |
Created on 2010-06-16 16:13:15,
Last reviewed on 2024-04-12 09:50:40 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2014-03-13 12:59:43 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2021-04-02 11:03:24 | The IthaGenes Curation Team | Reviewed. HGVS, protein name and locus location corrected. |
| 4 | 2022-09-21 12:43:26 | The IthaGenes Curation Team | Reviewed. Comment edit. |
| 5 | 2024-04-09 15:04:25 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. |
| 6 | 2024-04-12 09:50:40 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07