IthaID: 3267
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 23 GAG>TAG | HGVS Name: | HBA1:c.70G>T |
| Hb Name: | N/A | Protein Info: | N/A |
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGX
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 37649 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| Ethnic Origin: | Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Cardiero G, Scarano C, Musollino G, Di Noce F, Prezioso R, Dembech S, La Porta G, Bisconte MG, Colella R, Lacerra G, Role of NMD and NAS in the mRNA pattern of two new α-thalassemia mutants., Int. J. Biochem. Cell Biol. , 2017
Created on 2017-09-28 18:52:36,
Last reviewed on 2022-07-12 12:03:08 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.