IthaID: 372
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 39-41 (-9 bp, + 8 bp) | HGVS Name: | NG_000006.1:g.34010_34018delinsTACTTCCC |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: A deletion of 9 bp (codons 39–41) is replaced by an eight nucleotide insertion, duplicating the adjacent downstream sequence. It results in a premature stop of α2-globin synthesis at codon 48 (TGA).
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34010 |
| Size: | 9 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Yemenite-Jewish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Oron-Karni V, Filon D, Rund D, Oppenheim A, A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human alpha2-globin gene., Hum. Mol. Genet. , 6(6), 881-5, 1997
Created on 2010-06-16 16:13:15,
Last reviewed on 2020-03-30 16:53:55 (Show full history)
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