IthaID: 587
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 64 GAC>CAC [Asp>His] | HGVS Name: | HBA1:c.193G>C |
| Hb Name: | Hb Q-India | Protein Info: | α1 64(E13) Asp>His |
Context nucleotide sequence:
TAAGGGCCACGGCAAGAAGGTGGCC [A/C/G/T] ACGCGCTGACCAACGCCGTGGCGCA (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVAHALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
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: | 37889 |
| 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: | French, Hindu, Iranian |
| 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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 309 | Hb Q-India | α1 | D-10 | Dual Kit Program | 14.8 | 4.37 | Heterozygote. Clinically normal. | [PDF] | |
| 310 | Hb Q-India | α1 | VARIANT | β-thal Short Program | 17.3 | 4.7 | Heterozygote. Clinically normal. | [PDF] | |
| 311 | Hb Q-India | α1 | VARIANT II | β-thal Short Program | 17.2 | 4.79 | Heterozygote. Clinically normal. | [PDF] | |
| 312 | Hb Q-India | α1 | VARIANT II | Dual Kit Program | 14.9 | 3.93 | Heterozygote. Clinically normal. | [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
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Publications / Origin
- Sukumaran PK, Merchant SM, Desai MP, Wiltshire BG, Lehmann H, Haemoglobin Q India (alpha 64(E13) aspartic acid histidine) associated with beta-thalassemia observed in three Sindhi families., J. Med. Genet. , 9(4), 436-42, 1972 PubMed
- Schmidt RM, Bechtel KC, Moo-Penn WF, Hemoglobin QIndia, alpha 64 (E13) Asp replaced by His, and beta-thalassemia in a Canadian family., Am. J. Clin. Pathol. , 66(2), 446-8, 1976 PubMed
- Cheng TC, Orkin SH, Antonarakis SE, Potter MJ, Sexton JP, Markham AF, Giardina PJ, Li A, Kazazian HH, beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects., Proceedings of the National Academy of Sciences of the United States of America, 81(9), 2821-5, 1984 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-04-10 08:04:37 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-10 08:04:37 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07