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 |
Context nucleotide sequence:
GTCTGCCGTTACTGCCCTGTGGGGC [A/C] AGGTGAACGTGGATGAAGTTGGTGG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGQVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as: Hb Nicosia
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: | 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: | N/A |
| Ethnic Origin: | Cypriot |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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
- FESSAS C, KARAKLIS A, LOUKOPOULOS D, STAMATOYANNOPOULOS G, FESSAS P, HAEMOGLOBIN NICOSIA. AN ALPHA-CHAIN VARIANT AND ITS COMBINATION WITH BETA-THALASSAEMIA., Br J Haematol, 11(0), 323-30, 1965 PubMed
- Spivak VA, Some abnormal hemoglobin identifications in the U.S.S.R. by micropreparative thin layer peptide mapping., Hemoglobin, 13(2), 219-20, 1989 PubMed
- Kyrri AR, Felekis X, Kalogerou E, Wild BJ, Kythreotis L, Phylactides M, Kleanthous M, Hemoglobin variants in Cyprus., Hemoglobin, 33(2), 81-94, 2009 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2022-11-30 08:33:15 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2022-11-29 15:51:08 | The IthaGenes Curation Team | Reviewed. Synonym name added. |
| 4 | 2022-11-30 08:33:15 | The IthaGenes Curation Team | Reviewed. References added. |
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IthaGenes was last updated on 2024-11-20 13:24:07