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
Frequencies
Publications / Origin
- Blackwell RQ, Liu CS, Hemoglobin G Taichung: alpha-74 Asp leads to His., Biochim. Biophys. Acta , 200(1), 70-5, 1970
- Pootrakul S, Dixon GH, Hemoglobin Mahidol: a new hemoglobin alpha-chain mutant., Can. J. Biochem. , 48(9), 1066-78, 1970
- 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
- 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
- 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
- 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
- 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
- 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
- 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
Created on 2010-06-16 16:13:16,
Last reviewed on 2023-02-23 11:26:05 (Show full history)
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