IthaID: 857
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 17 AAG>CAG | HGVS Name: | HBB:c.52A>C |
| Hb Name: | Hb Nikosia | Protein Info: | β 17(A14) Lys>Gln |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GTCTGCCGTTACTGCCCTGTGGGGC [A/C] AGGTGAACGTGGATGAAGTTGGTGG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGQVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Comments: Hb Nicosia is a β-globin variant identified by peptide mapping and sequencing, revealing a β17 (A14) Lys>Gln substitution. This should not be confused with Hb Nikosia [PMID: 14282069], an α-globin variant characterized using protein-based methods and hybridization studies, for which no peptide or DNA analysis was performed to define the exact nucleotide change.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70646 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Cypriot |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Spivak VA, Some abnormal hemoglobin identifications in the U.S.S.R. by micropreparative thin layer peptide mapping., Hemoglobin, 13(2), 219-20, 1989
- Kyrri AR, Felekis X, Kalogerou E, Wild BJ, Kythreotis L, Phylactides M, Kleanthous M, Hemoglobin variants in Cyprus., Hemoglobin, 33(2), 81-94, 2009