IthaID: 959
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 46 GGG>GAG | HGVS Name: | HBB:c.140G>A |
| Hb Name: | Hb K-Ibadan | Protein Info: | β 46(CD5) Gly>Glu |
Context nucleotide sequence:
ACCCAGAGGTTCTTTGAGTCCTTTG [A/G] GGATCTGTCCACTCCTGATGCTGTT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFEDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | 70864 |
| 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: | African Yoruba | Italian |
| 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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 233 | Hb K-Ibadan | β | D-10 | Dual Kit Program | 7.8 | 1.38 | Heterozygote. Clinically normal. | [PDF] | |
| 234 | Hb K-Ibadan | β | VARIANT | β-thal Short Program | 32 | 1.99 | Heterozygote. Clinically normal. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Landin B, Jeppsson JO, Rare beta chain hemoglobin variants found in Swedish patients during HBA1c analysis., Hemoglobin, 17(4), 303-18, 1993
Created on 2010-06-16 16:13:16,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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