IthaID: 4093


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 95 (-C) HGVS Name: HBA1:c.287delC
Hb Name: Hb Campania Protein Info: N/A

Context nucleotide sequence:
TGCACGCGCACAAGCTTCGGGTGGACC [C/-] GGTCAACTTCAAGGTGAGCGGCGGGCC (Strand: +)

Also known as:

Comments: The C deletion at codon 95, results in a frameshift, that gives rise to a premature stop codon at position 101 leading to a truncated protein. Found in a family in Naples and both carriers showed mild α-thalassemia haematological alterations. HPLC and electrophoresis revealed no abnormal haemoglobin or globin chains. However, both qualitative and semiquantitative analyses of the mRNA from the carrier’s reticulocytes revealed a decrease in mutant mRNA constituted 34% (Hb Campania) of total α1-globin mRNA. The analyses of the 3D models indicate that the Hb Campania is unstable.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37983
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Southern Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Cardiero G, Musollino G, Prezioso R, Lacerra G, mRNA Analysis of Frameshift Mutations with Stop Codon in the Last Exon: The Case of Hemoglobins Campania [α1 cod95 (-C)] and Sciacca [α1 cod109 (-C)]., Biomedicines, 9(10), , 2021
Created on 2024-02-16 13:37:00, Last reviewed on 2024-02-22 09:54:08 (Show full history)

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