IthaID: 140
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 38/39 (-C) | HGVS Name: | HBB:c.118delC |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
AGGCTGCTGGTGGTCTACCCTTGGACC [-/C] AGAGGTTCTTTGAGTCCTTTGGGG (Strand: -)
Also known as:
Comments: Loss of nt C between codons 38 and 39 generates a frameshift with a nonsense codon at codon 60 (TGA) terminating translation. Found in a heterozygous state and in compound heterozygosity with a nondeletional Gγ-HPFH in members of a Czechoslovakian family.
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: | 70842 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Czechoslovakian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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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Frequencies
Publications / Origin
- Indrak K, Indrakova J, Kutlar F, Pospisilova D, Sulovska I, Baysal E, Huisman TH, Compound heterozygosity for a beta zero-thalassemia (frameshift codons 38/39; -C) and a nondeletional Swiss type of HPFH (A----C at NT -110, G gamma) in a Czechoslovakian family., Annals of hematology, 63(2), 111-5, 1991 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2019-11-07 08:51:05 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2019-11-07 08:51:05 | The IthaGenes Curation Team | Reviewed. HGVS name and Location corrected. Allele, Context sequence, Comment and dbSNP link added. |
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IthaGenes was last updated on 2024-11-20 13:24:07