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
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
- 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
Created on 2019-04-04 15:51:19,
Last reviewed on 2019-11-13 14:35:30 (Show full history)
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