IthaID: 53
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 2/3 (+T); CD 5 (-C) | HGVS Name: | HBB:c.[9dupT; 17delC] |
| Hb Name: | Hb Antalya | Protein Info: | β 2 - 5 His-Leu-Thr-Pro replaced with His-Ser-Asp-Ser |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
AACAGACACCATGGTGCAT[-/T]CTGACTC [-/C] TGAGGAGAAGTCTGCCGTTACTGC (Strand: -)
Comments: Found in a proband with beta-thalassaemia trait. The amino acid residues Leu-Thr-Pro (codons 3-5) of the normal allele in the β-globin gene are changed to Ser-Asp-Ser, respectively, by insertion of a nt T between codon 2 and codon 3 (CAT [+T] CTG) and deletion of a nt C at codon 5 (CCT>C-T).
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | β+ Thalassaemia Dominant |
| Stability: | Hyperunstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70603 or 70611 |
| Size: | 1 bp or 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Insertion/Deletion of codons (Protein Structure) |
| Ethnic Origin: | Turkish |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
- Keser I, Kayisli OG, Yesilipek A, Ozes ON, Luleci G, Hb Antalya [codons 3-5 (Leu-Thr-Pro-->Ser-Asp-Ser)]: a new unstable variant leading to chronic microcytic anemia and high Hb A2., Hemoglobin, 25(4), 369-73, 2001 PubMed
Created on 2010-06-16 16:13:14,
Last reviewed on 2024-04-29 12:50:12 (Show full history)
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