IthaID: 717
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 115 GCC>GAC [Ala>Asp] | HGVS Name: | HBA1:c.347C>A | HBA2:c.347C>A |
| Hb Name: | Hb J-Tongariki | Protein Info: | α2 or α1 115(GH3) Ala>Asp |
Context nucleotide sequence:
GTGACCCTGGCCGCCCACCTCCCCG [A/C/T] CGAGTTCACCCCTGCGGTGCACGCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPDEFTPAVHASLDKFLASVSTVLTSKYR
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: | 34381 or 38192 |
| Size: | 1 bp or 1 bp |
| Located at: | α1 or α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Kilengi, Melanesian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
HPLC
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To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 170 | Hb J-Tongariki | α1 or α2 | D-10 | Dual Kit Program | 20.3 | 1.59 | Heterozygous. Associated with alpha 3.7. | [PDF] | |
| 171 | Hb J-Tongariki | α1 or α2 | VARIANT | β-thal Short Program | 21.8 | 1.82 | Heterozygous. Associated with alpha 3.7 | [PDF] | |
| 172 | Hb J-Tongariki | α1 or α2 | VARIANT II | β-thal Short Program | 22.6 | 1.91 | Heterozygous. Associated with alpha 3.7 | [PDF] | |
| 173 | Hb J-Tongariki | α1 or α2 | VARIANT II | Dual Kit Program | 21.6 | 1.684 | Heterozygous. Associated with alpha 3.7 | [PDF] | |
| 187 | Hb J-Tongariki | α1 or α2 | VARIANT | β-thal Short Program | 19.3 | 1.78 | Heterozygous. Associated with alpha 3.7 | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Abramson RK, Rucknagel DL, Shreffler DC, Saave JJ, Homozygous Hb J Tongariki: evidence for only one alpha chain structural locus in Melanesians., Science , 169(3941), 194-6, 1970
- Old JM, Clegg JB, Weatherall DJ, Booth PB, Haemoglobin J Tongariki is associated with alpha thalassaemia., Nature , 273(5660), 319-20, 1978
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-14 17:25:58 (Show full history)
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