IthaID: 3336
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 7 GAG>TAG [Glu>STOP] | HGVS Name: | HBD:c.22G>T |
| Hb Name: | N/A | Protein Info: | N/A |
Protein sequence:
MVHLTPEX
Also known as:
Comments: Nonesense mutation that gives rise to a stop codon (TAG) at codon 7, causing premature termination of translation.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available 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: | 63204 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 1 |
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
Frequencies
Publications / Origin
- Sun M, Lou J, Zhao Y, Liu Y, Molecular and Hematological Characterization of Two Novel δ-Globin Gene Mutations Found in Chinese Individuals., Hemoglobin , 2018
Created on 2018-06-04 19:21:06,
Last reviewed on (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.