IthaID: 3721
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 14 CTG>-TG | HGVS Name: | HBB:c.43delC |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
AGGAGAAGTCTGCCGTTACTGCC [T/-] AGGAGAAGTCTGCCGTTACTGCC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTACGARX
Also known as:
Comments: Found in two in a 1-year old girl with significantly reduced MCV 63.4 fL and MCH 18.2 pg. The mutation was inherited from her 27-year old father, who was also associated with significantly reduced MCV 63.4 fL, MCH 18.2 pg and Hb 11.5 g/dL. The T deletion, causing a frameshift that introduces a premature stop codon four amino acids further down the new reading frame.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70637 |
| 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: | Chinese |
| 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
- Zhang H, Li C, Li J, Hou S, Chen D, Yan H, Chen S, Liu S, Yin Z, Yang X, Tan J, Huang X, Zhang L, Fang J, Zhang C, Li W, Guo J, Lei D, Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China., J Clin Lab Anal, 33(4), e22845, 2019 PubMed
Created on 2021-01-30 14:57:41,
Last reviewed on 2021-02-01 12:30:52 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2021-01-30 14:57:41 | The IthaGenes Curation Team | Created |
| 2 | 2021-01-30 15:03:05 | The IthaGenes Curation Team | Reviewed. Protein info corrected. |
| 3 | 2021-02-01 12:30:52 | The IthaGenes Curation Team | Reviewed. Protein info corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07