IthaID: 994
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 58 CCT>CAT [Pro>His] | HGVS Name: | HBB:c.176C>A |
| Hb Name: | Hb Sheffield | Protein Info: | β 58(E2) Pro>His |
Context nucleotide sequence:
ACTCCTGATGCTGTTATGGGCAACC [C>A] TAAGGTGAAGGCTCATGGCAAGAAA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNHKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | 70900 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | British, Omani |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Al Zadjali S, Daar S, AlKindi S, Gravell D, Al Haddabi H, Berbar T, Krishnamoorthy R, Hb Sheffield [β58(E2)Pro→His] in Oman: potential pitfall in genetic counseling., Hemoglobin , 35(2), 111-6, 2011
Created on 2010-06-16 16:13:16,
Last reviewed on 2023-08-04 12:51:35 (Show full history)
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