IthaID: 1274
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 138 GCT>CCT [Ala>Pro] | HGVS Name: | HBB:c.415G>C |
| Hb Name: | Hb Brockton | Protein Info: | β 138(H16) Ala>Pro |
Context nucleotide sequence:
CTATCAGAAAGTGGTGGCTGGTGTG [A/C/G] CTAATGCCCTGGCCCACAAGTATCA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVPNALAHKYH
Also known as:
Comments: The substituted proline disrupts intermolecular hydrogen bonding between β138Ala and β134Val in helix H, producing an unstable haemoglobin variant with a propensity to precipitate and aggregate. Variant does not show altered O2 binding affinity or electrophoretic mobility shifts.
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: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71989 |
| 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: | Caucasian, Chinese, Turkish |
| Molecular mechanism: | Altered secondary structure |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
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
- Ulukutlu L, Ozsahin H, Wilson JB, Webber BB, Hu H, Kutlar A, Kutlar F, Huisman TH, Hb Brockton [alpha 2 beta 2138(H16)Ala----Pro] observed in a Turkish girl., Hemoglobin, 13(5), 509-13, 1989 PubMed
- Thom CS, Dickson CF, Gell DA, Weiss MJ, Hemoglobin variants: biochemical properties and clinical correlates., Cold Spring Harb Perspect Med, 3(3), a011858, 2013 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2019-06-19 12:15:00 (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 | 2015-12-03 16:33:33 | The IthaGenes Curation Team | Reviewed. Phenotype updated |
| 4 | 2019-06-19 12:15:00 | The IthaGenes Curation Team | Reviewed. Comment and Refence added. |
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IthaGenes was last updated on 2024-11-20 13:24:07