IthaID: 3361
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 138/139 (+T) | HGVS Name: | HBB:c.417dupT |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CAGAAAGTGGTGGCTGGTGTGGGCT [-/T] AATGCCCTGGCCCACAAGTATCACT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVAX
Also known as:
Comments: The β-thal phenotype was derived using in silico predictors (SIFT and POLYPHEN). The insertion of a nt T between codon 138 and codon 139 creates a shift in the reading frame with a premature stop codon at codon 139 (TAA).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
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: | 71991 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| 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
- Lin F, Yang L, Lin M, Zheng X, Lu M, Qiu M, Li L, Xie L, [Rare thalassemia mutations among southern Chinese population]., Zhonghua Yi Xue Yi Chuan Xue Za Zhi , 34(6), 792-796, 2017 PubMed
- Jiang F, Huang LY, Chen GL, Zhou JY, Xie XM, Li DZ, A Novel Frameshift Mutation at Codons 138/139 (HBB: c.417_418insT) on the β-Globin Gene Leads to β-Thalassemia., Hemoglobin, 41(1), 59-60, 2017 PubMed
Created on 2019-04-04 15:51:19,
Last reviewed on 2019-11-13 14:35:30 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-04-04 15:51:19 | The IthaGenes Curation Team | Created |
| 2 | 2019-11-13 14:30:16 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. Allele and Context sequence, Comment and Reference added. |
| 3 | 2019-11-13 14:35:30 | The IthaGenes Curation Team | Reviewed. Reference added. |
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IthaGenes was last updated on 2024-11-20 13:24:07