IthaID: 168



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 59 -A HGVS Name: HBB:c.179delA
Hb Name: N/A Protein Info: β 59 (-A); modified C-terminal sequence: (59)Arg-COOH

Context nucleotide sequence:
TCCTGATGCTGTTATGGGCAACCCTA [-/A] GGTGAAGGCTCATGGCAAGAAAGT (Strand: -)

Also known as:

Comments: Single nucleotide deletion (-A) generating a frameshift and a premature termination codon at codon 60. Found in a β-thalassaemia carrier of Northern Italian descend.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

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: 70903
Size: 1 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
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

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

  1. Meloni A, Demurtas M, Moi L, Faà V, Cao A, Rosatelli MC, A novel beta-thalassemia mutation: frameshift at codon 59 detected in an Italian carrier., Human mutation, 3(3), 309-11, 1994 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2019-11-06 11:23:46 (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.