
IthaID: 3014
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
Common Name: | CD 2 CAT>C-T | HGVS Name: | HBB:c.8delA |
Hb Name: | N/A | Protein Info: | β 1 (-T); modified C-terminal sequence: (1)Gly-Ile-(3)COOH |
Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Protein sequence:
MVLX
Comments: Found as a heterozygote associated with a beta-thal mutation. Observed in a child with clinical symptoms of thalassemia at an age of 6 months, with fever and pallor. The child only survived for 11 months with two transfusions occurring within survival period. This deletion results in a stop codon after third position of the growing amino-acid chain, purportedly leading to β0 condition from that allele.
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
---|---|
Hemoglobinopathy Subgroup: | β-thalassaemia |
Allele Phenotype: | β0 |
Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
---|---|
Locus: | NG_000007.3 |
Locus Location: | 70602 |
Size: | 1 bp |
Located at: | β |
Specific Location: | Exon 1 |
Other details
Type of Mutation: | Point-Mutation(Deletion) |
---|---|
Effect on Gene/Protein Function: | Frameshift (Translation) |
Ethnic Origin: | Indian |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Nagar R, Sinha S, Raman R, Genotype-phenotype correlation and report of novel mutations in β-globin gene in thalassemia patients., Blood Cells Mol. Dis. , 55(1), 10-4, 2015
Created on 2016-08-24 12:11:41,
Last reviewed on 2016-08-24 12:13:20 (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.