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.
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
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
- 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 PubMed
Created on 2021-08-23 12:34:58,
Last reviewed on 2022-08-24 11:18:45 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2021-08-23 12:34:58 | The IthaGenes Curation Team | Created |
| 2 | 2021-08-23 12:59:15 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
| 3 | 2022-08-24 11:18:45 | The IthaGenes Curation Team | Reviewed. Allele phenotype corrected. |
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IthaGenes was last updated on 2023-03-22 16:46:31