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 |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CTATCAGAAAGTGGTGGCTGGTGTG [A/C/G] CTAATGCCCTGGCCCACAAGTATCA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVPNALAHKYH
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.
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
Sequence Viewer
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Frequencies
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)
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