IthaID: 3844
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 87 CAG>TAG [Gln>STOP] | HGVS Name: | HBD:c.262C>T |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GGACAACCTCAAGGGCACTTTTTCT [C>T] AGCTGAGTGAGCTGCACTGTGACAA (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSX
Also known as:
Comments: Variation causes a premature stop of δ-globin synthesis at codon 87 and might cause δ0 thalassemia. Compound heterozygosity with δ -77 T>C presented with a reduction in HbA2 levels (Hb 128 g/L, MCV 91.1 fL, MCH 30.7 pg, RDW 13.6%, HbA2 1.3%, and SF 64.79 ng/mL).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δ-thalassaemia |
| Allele Phenotype: | δ0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63572 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (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
- Chen M, Huang H, Chen L, Lin N, Zhang M, Lin Y, Xu L, First report of the spectrum of δ-globin gene mutations among women of reproductive age in Fujian area-Discrimination of δ-thalassemia, α-thalassemia, and Iron Deficiency Anemia., J Clin Lab Anal, 34(11), e23479, 2020 PubMed
Created on 2021-08-18 09:16:40,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2021-08-18 09:16:40 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07