IthaID: 1040
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 73 GAT>AAT | HGVS Name: | HBB:c.220G>A |
| Hb Name: | Hb G-Accra | Protein Info: | β 73(E17) Asp>Asn |
Context nucleotide sequence:
CAAGAAAGTGCTCGGTGCCTTTAGT [A/G/T] ATGGCCTGGCTCACCTGGACAACCT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSNGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as: Hb Korle-Bu
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: | Decreased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70944 |
| 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 |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
HPLC
Disclaimer: The HPLC images are provided as an information resource only.
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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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 384 | Hb G-Accra | β | D-10 | Dual Kit Program | 40.6 | 3.53 | Normal in the heterozygote. | [PDF] | |
| 385 | Hb G-Accra | β | VARIANT | β-thal Short Program | 43.9 | 3.88 | Normal in the heterozygote. | [PDF] | |
| 386 | Hb G-Accra | β | VARIANT II | β-thal Short Program | 43.5 | 3.89 | Normal in the heterozygote. | [PDF] | |
| 387 | Hb G-Accra | β | VARIANT II | Dual Kit Program | 43.1 | 3.144 | Normal in the heterozygote. | [PDF] |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Konotey-Ahulu FI, Gallo E, Lehmann H, Ringelhann B, Haemoglobin Korle-Bu (beta 73 aspartic acid replaced by asparagine) showing one of the two amino acid substitutions of haemoglobin C Harlem., Journal of medical genetics, 5(2), 107-11, 1968
- Nagel RL, Lin MJ, Witkowska HE, Fabry ME, Bestak M, Hirsch RE, Compound heterozygosity for hemoglobin C and Korle-Bu: moderate microcytic hemolytic anemia and acceleration of crystal formation [corrected]., Blood , 82(6), 1907-12, 1993
Created on 2010-06-16 16:13:16,
Last reviewed on 2017-04-18 11:41:37 (Show full history)
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