IthaID: 242
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 120 -A [156 aa] | HGVS Name: | HBB:c.363delA |
| Hb Name: | Hb Filottrano | Protein Info: | β 120 (-A); modified C-terminal sequence |
| Also known as: | CD 120 AAA>AA- |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GCTGGCCCATCACTTTGGCAA [-/A] GAATTCACCCCACCAGTG (Strand: -)
Comments: Single nucleotide deletion (-A) resulting in a frameshift and the elongation of the β-globin chain to 156 amino acids. Found as a compound heterozygote with Hb C in a patient of undisclosed ethnicity, presenting with severe anaemia. Also found in a heterozygous state in an Italian proband presenting with a β-thalassaemia intermedia phenotype. Reported in literature as HBB:c.361delA, which does not follow the HGVS Sequence Variant Nomeclature recommendations.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | Dominant |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71937 |
| Size: | 1 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: | Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Frischknecht H, Dutly F, Walker L, Nakamura-Garrett LM, Eng B, Waye JS, Three new beta-thalassemia mutations with varying degrees of severity., Hemoglobin, 33(3), 220-5, 2009
- Amato A, Cappabianca MP, Perri M, Zaghis I, Mastropietro F, Ponzini D, Di Biagio P, Piscitelli R, Hb Filottrano [codon 120 (-A)]: a novel frameshift mutation in exon 3 of the β-globin gene causing dominantly inherited β-thalassemia intermedia., Hemoglobin , 36(5), 480-4, 2012
Created on 2010-06-16 16:13:15,
Last reviewed on 2019-11-06 11:56:50 (Show full history)
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