IthaID: 124
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | IVS I [3' end] (+22bp) | HGVS Name: | NG_000007.3:g.70807_70828dup |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The duplication found in heterozygosity with Hb E. The 22bp tandem duplication around the intron 1/exon 2 boundary, resulting in a premature stop codon. The deduced amino acid sequence yielded only 37-residue peptide.
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: | 70807 |
| Size: | 22 bp |
| Located at: | β |
| Specific Location: | Intron 1 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Rojnuckarin P, Settapiboon R, Vanichsetakul P, Sueblinvong T, Sutcharitchan P, Severe beta(0) thalassemia/hemoglobin E disease caused by de novo 22-base pair duplication in the paternal allele of beta globin gene., American journal of hematology, 82(7), 663-5, 2007
Created on 2010-06-16 16:13:14,
Last reviewed on 2020-05-04 12:58:11 (Show full history)
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