IthaID: 3019
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 68-70 (-7bp): (-TCGGTGC) | HGVS Name: | HBB:c.206_212delTCGGTGC |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Found as a heterozygote in a patient with beta-thal minor clinical presentation. This is a frameshift mutation that causes a premature chain termination of translation due to the creation of a stop codon 19 amino acids downstream, forming a short β-globin chain of 87 amino acids.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β+ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70930 |
| Size: | 7 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Turkish |
| Molecular mechanism: | Altered secondary structure |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Ozkinay F, Onay H, Karaca E, Arslan E, Erturk B, Ece Solmaz A, Tekin IM, Cogulu O, Aydinok Y, Vergin C, Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation., Hemoglobin , 39(4), 230-4, 2015
Created on 2016-08-25 15:43:30,
Last reviewed on 2017-05-30 10:15:54 (Show full history)
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