IthaID: 982
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 53 GCT>ACT | HGVS Name: | HBB:c.160G>A |
| Hb Name: | Hb Acharnes | Protein Info: | β 53(D4) Ala>Thr |
Context nucleotide sequence:
CTTTGGGGATCTGTCCACTCCTGAT [A/G] CTGTTATGGGCAACCCTAAGGTGAA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDTVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70884 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Greek |
| 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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 89 | Hb Acharnes | β | D-10 | Dual Kit Program | 81.7 | 1.7 | Unstable variant. Chronic hemolytic anemia. Elutes together with HbA0 or as a shoulder in the ascending part. | [PDF] | |
| 90 | Hb Acharnes | β | VARIANT | β-thal Short Program | 30.2 | 2.28 | Unstable variant. Chronic hemolytic anemia. Elutes together with HbA0 or as a shoulder in the ascending part. | [PDF] | |
| 91 | Hb Acharnes | β | VARIANT II | β-thal Short Program | 82.8 | 2.47 | Unstable variant. Chronic hemolytic anemia. Elutes together with HbA0 or as a shoulder in the ascending part. | [PDF] | |
| 92 | Hb Acharnes | β | VARIANT II | Dual Kit Program | 80.1 | 1.776 | Unstable variant. Chronic hemolytic anemia. Elutes together with HbA0 or as a shoulder in the ascending part. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Papassotiriou I, Traeger-Synodinos J, Promé D, Kister J, Stamou E, Liakopoulou T, Stamoulakatou A, Kanavakis E, Wajcman H, Association of unstable hemoglobin variants and heterozygous beta-thalassemia: example of a new variant Hb Acharnes or [beta53(D4) Ala --> Thr]., American journal of hematology, 62(3), 186-92, 1999
Created on 2010-06-16 16:13:16,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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