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
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
- 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
- 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-04-10 08:04:37 (Show full history)
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