IthaID: 3359
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 13 GCC>ACC [Ala>Thr] | HGVS Name: | HBB:c.40G>A |
| Hb Name: | Hb Tower Hamlets | Protein Info: | β 13(A10) Ala>Thr |
Context nucleotide sequence:
CCTGAGGAGAAGTCTGCCGTTACT [G/A] CCCTGTGGGGCAAGGTGAACGTGGAT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTTLWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as: Hb Chuxiong
Comments: Co-inherited with beta plus thalassaemia mutation. Runs with Hb A on HPLC (Biorad VNBS) and IEF. Detected via newborn screening with MSMS. In a recent publication [PMID:34708592], the 40G>A found in a 27-year-old female presented with normal CE patterns and normal blood parameters.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70634 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Bangladeshi/Pakistani, 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
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Daniel, Yvonne | 2019-01-17 | First report. |
| 2 | Monteiro, Daniel | 2019-01-17 | First report. |
Created on 2019-03-27 17:00:17,
Last reviewed on 2022-01-05 11:55:34 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-03-27 17:00:17 | The IthaGenes Curation Team | Created |
| 2 | 2022-01-04 20:04:18 | The IthaGenes Curation Team | Reviewed. Reference and origin added. |
| 3 | 2022-01-05 11:55:34 | The IthaGenes Curation Team | Reviewed. Link added. |
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IthaGenes was last updated on 2024-11-20 13:24:07