IthaID: 607
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| 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 [G>C] ACGACATGCCCAACGCGCTGTCCGC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVHDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb Asabara, Hb G-Taichung, Hb Kurashiki-I, Hb Mahidol
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: | 37919 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Chinese, Thai, Japanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 211 | Hb Q-Thailand | α1 | D-10 | Dual Kit Program | 22.5 | 4.18 | heterozygote | [PDF] | |
| 212 | Hb Q-Thailand | α1 | VARIANT | β-thal Short Program | 22.9 | 4.51 | heterozygote | [PDF] | |
| 213 | Hb Q-Thailand | α1 | VARIANT II | β-thal Short Program | 86.9 | 4.38 | heterozygote | [PDF] | |
| 214 | Hb Q-Thailand | α1 | VARIANT II | Dual Kit Program | 23.8 | 3.644 | heterozygote | [PDF] |
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
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.
Frequencies
Publications / Origin
- Blackwell RQ, Liu CS, Hemoglobin G Taichung: alpha-74 Asp leads to His., Biochim. Biophys. Acta , 200(1), 70-5, 1970 PubMed
- Pootrakul S, Dixon GH, Hemoglobin Mahidol: a new hemoglobin alpha-chain mutant., Can. J. Biochem. , 48(9), 1066-78, 1970 PubMed
- 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
- 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
- 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
- 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
- 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
- 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
- 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 2023-02-23 11:26:05 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-10 09:36:39 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2016-08-22 10:51:38 | The IthaGenes Curation Team | Reviewed. Common name modified. |
| 5 | 2023-02-23 11:26:05 | The IthaGenes Curation Team | Reviewed. Allele info edited |
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.
IthaGenes was last updated on 2024-11-20 13:24:07