IthaID: 2553
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 14 CTG>C-G | HGVS Name: | HBB:c.44delT |
| Hb Name: | N/A | Protein Info: | β 14(A11) Leu>Arg-Gly-Ala-Arg-stop |
Context nucleotide sequence:
GAGGAGAAGTCTGCCGTTACTGCCC [T/-] GTGGGGCAAGGTGAACGTGGATGAA (Strand: -)
Also known as:
Comments: The deletion determines a frameshift and the generation of a premature termination codon (codon 18).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70638 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Argentinean, Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Pepe C, Eberle SE, Chaves A, Milanesio B, Aguirre FM, Gómez VA, Diaz L, Mansini AP, Fernandez DA, Sciuccati G, Candas A, Cervio C, Bonduel M, Feliú-Torres A, A new β(0) frameshift mutation, HBB: c.44delT (p.Leu14ArgfsX5), identified in an Argentinean family associated with secondary genetic modifiers of β-thalassemia., Hemoglobin , 38(6), 444-6, 2014
Created on 2015-06-16 13:19:21,
Last reviewed on (Show full history)
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