IthaID: 863
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 19 AAC>AAA or AAG | HGVS Name: | HBB:c.60C>A | HBB:c.60C>G |
| Hb Name: | Hb D-Ouled Rabah | Protein Info: | β 19(B1) Asn>Lys |
Context nucleotide sequence:
TTACTGCCCTGTGGGGCAAGGTGAA [A/C/G/T] GTGGATGAAGTTGGTGGTGAGGCCC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVKVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70654 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Algerian | Tuareg tribe |
| 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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 105 | Hb D-Ouled Rabah | β | D-10 | Dual Kit Program | 48.3 | 2.64 | Carrier. Clinically normal. Elutes as HbA2 in CE-HPLC. | [PDF] | |
| 106 | Hb D-Ouled Rabah | β | VARIANT | β-thal Short Program | 76.7 | 3.58 | [PDF] | ||
| 107 | Hb D-Ouled Rabah | β | VARIANT II | β-thal Short Program | 75.1 | 3.57 | [PDF] | ||
| 108 | Hb D-Ouled Rabah | β | VARIANT II | Dual Kit Program | 59.2 | 2.736 | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Elion J, Belkhodja O, Wajcman H, Labie D, Two variants of hemoglobin D in the algerian population: hemoglobin D Ouled Rabah 19 (BI) Asn leads to Lys and hemoglobin D Iran 22 (Br) Glu leads to Gln., Biochimica et biophysica acta, 310(2), 360-4, 1973
Created on 2010-06-16 16:13:16,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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