IthaID: 816
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 6 GAG>GTG; CD 58 CCT>CGT | HGVS Name: | HBB:c.[20A>T;176C>G] |
| Hb Name: | Hb C-Ziguinchor | Protein Info: | β 6(A3) Glu>Val AND β 58(E2) Pro>Arg |
Context nucleotide sequence:
GACACCATGGTGCATCTGACTCCTG [A/C/G/T] GGAGAAGTCTGCCGTTACTGCCCTG (Strand: -)
Protein sequence:
MVHLTPVEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | Sickling |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70614 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Senegal |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Goossens M, Garel MC, Auvinet J, Basset O, Ferreira Gomes P, Rosa J, Arous N, Hemoglobin C Ziguinchor alphaA2 beta62 (A3) Glu leads to Val beta58 (E2) Pro leads to Arg: the second sickling variant with amino acid substitutions in 2 residues of the beta polypeptide chain., FEBS letters, 58(1), 149-54, 1975
Created on 2010-06-16 16:13:16,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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