IthaID: 171
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 62-64 (-7bp) | HGVS Name: | HBB:c.189_195delTCATGGC |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GGGCAACCCTAAGGTGAAGGC [TCATGGC/-] AAGAAAGTGCTCGGTGCCTTT (Strand: -)
Comments: The 7bp deletion caused a shift in the normal reading frame of the β-globin coding sequence and created a stop codon at codon 87. This led to an altered β chain with only 23 residues and to a β0 thalassaemia phenotype.
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: | 70913 |
| Size: | 7 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Italian, Chinese |
| Molecular mechanism: | Altered heme pocket |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- He S, Lin L, Wei Y, Chen B, Yi S, Chen Q, Qiu X, Wei H, Li G, Zheng C, Identification of a Novel β-Globin Mutation (HBB: C.189_195delTCATGGC) in a Chinese Family., Hemoglobin , 40(4), 277-9, 2016 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-10-20 16:00:20 (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.