IthaID: 1247
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 129 GCC>? [Ala>Asp or Ala>Glu] | HGVS Name: | HBB:c.389C>A | HBB:c.389_390delinsAA or HBB:c.389_390delinsAG |
| Hb Name: | Hb K-Cameroon | Protein Info: | β 129(H7) Ala>Asp OR β 129(H7) Ala>Glu |
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQADYQKVVAGVANALAHKYH
Also known as:
Comments: Found in combination with Hb S. Characterization by protein analysis was incomplete. The Hb K-Cameroon caused by the substıtutıon of the neutral β129 Ala resıdue by an acıdıc residue (Asp or Glu). Therefore, the codon 129-GCC (Ala), can be mutated to GAC (Asp) but not easily to GAA or GAG (Glu).
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: | 71963 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Cameroon |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-04-07 08:48:56 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-15 18:44:41 | The IthaGenes Curation Team | Reviewed. Added ClinVar link; corrected common name. |
| 4 | 2020-04-30 16:14:24 | The IthaGenes Curation Team | Reviewed. HGVS name, comment, Chromosome and locus location corrected. |
| 5 | 2020-04-30 16:16:10 | The IthaGenes Curation Team | Reviewed. Comment edit. |
| 6 | 2021-04-07 08:48:56 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2023-03-21 11:16:02