IthaID: 3846
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 118 (-TT) | HGVS Name: | HBB:c.356_357delTT |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CTGGTCTGTGTGCTGGCCCATCACT [TT/-] GGCAAAGAATTCACCCCACCAGTGC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHWQRIHPTSAGCLSESGGWCGX
Also known as:
Comments: : Found in a 5-month-old female presented with severe congenital anaemia (Hb 5.9 g/dL, RBC 3.17×10^12/L) and moderate microcytosis (MCV 60.5 fL) and hypochromia (MCH 18.8 pg). The patient had transfusion-dependent β0-thalassaemia. The 2bp deletion, causing a frameshift that introduces a premature stop codon twenty amino acids further down the new reading frame.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71930 |
| Size: | 2 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Iraqi Kurd |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Atroshi SD, Al-Allawi N, Chui DHK, Najmabadi H, Khailany RA, A Novel β-Thalassemia Mutation, : c.356_357delTT [Codon 118 (-TT)] in an Iraqi Kurd., Hemoglobin, 45(3), 212-214, 2021