IthaID: 3885
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
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Common Name: | CD 17 (-C) | HGVS Name: | HBA2:c.54delC |
Hb Name: | N/A | Protein Info: | α2 17(A15) Val>Val |
Context nucleotide sequence:
CGTCAAGGCCGCCTGGGGTAAGGT [C/-] GGCGCGCACGCTGGCGAGTATGGT (Strand: +)
Also known as: Hb Kunming
Comments: Found in a 26-year-old female presented with slight α-thalassemia phenotypes with hypochromic and microcytic erythrocytes. According to mutalyzer software, the nucleotide frameshift would result in a shortened α-globin chain with a total of 48 amino acids.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
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Hemoglobinopathy Subgroup: | α-thalassaemia |
Allele Phenotype: | α⁺ |
Associated Phenotypes: | N/A |
Location
Chromosome: | 16 |
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Locus: | NG_000006.1 |
Locus Location: | 33829 |
Size: | 1 bp |
Located at: | α2 |
Specific Location: | Exon 1 |
Other details
Type of Mutation: | Point-Mutation(Deletion) |
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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 J, Xie M, Peng Z, Zhou X, Zhao T, Jin C, Yan Y, Zeng X, Li D, Zhang Y, Su J, Feng N, He J, Yao X, Lv T, Zhu B, Five novel globin gene mutations identified in five Chinese families by next-generation sequencing., Mol Genet Genomic Med, 9(12), e1835, 2021 PubMed
Created on 2022-01-04 19:05:36,
Last reviewed on 2022-07-12 11:08:32 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2022-01-04 19:05:36 | The IthaGenes Curation Team | Created |
2 | 2022-01-05 11:51:16 | The IthaGenes Curation Team | Reviewed. Link added. |
3 | 2022-07-12 11:08:32 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
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IthaGenes was last updated on 2024-09-28 12:00:32