IthaID: 4108
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 10 GCC>GTC [Ala>Val] | HGVS Name: | HBB:c.31_32insT |
| Hb Name: | N/A | Protein Info: | β 10(A7) Ala>Val |
Context nucleotide sequence:
GCATCTGACTCCTGAGGAGAAGTCT [-/T] CCGTTACTGCCCTGTGGGGCAAGGT (Strand: -)
Protein sequence:
MVHLTPEEKSVVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Found in three Syrian immigrants during an update of the variant spectrum in the HBB gene in Turkey. The T insertion causes a frameshift that introduces a premature stop codon thirteen amino acids downstream in the new reading frame (p.Ala11ValfsTer13). In silico genetic prediction tools evaluate this variant to be likely pathogenic according to the recommendations of the ACMG.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70625 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Syrian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Kocak Eker H, Balasar O, Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey., Mol Syndromol, 15(5), 362-370, 2024