IthaID: 3557
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 43 TTC>CTC [Phe>Leu] | HGVS Name: | HBA1:c.130T>C |
| Hb Name: | Hb Vanvitelli | Protein Info: | N/A |
Context nucleotide sequence:
GTCCTTCCCCACCACCAAGACCTAC [T>C] TCCCGCACTTCGACCTGAGCCACGG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYLPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Detected in a 14-year-old female presenting with haemolytic anaemia and hepatosplenomegaly. Co-inherited with the deletion -α3.7. Father was carrier for the variant, while none of her two siblings displayed any mutation in the α-globin genes. Asymptomatic in the heterozygous state with mild reticulocytosis and normal Hb value. The variant was characterized by HPLC and mass spectroscopy. Laboratory tests confirmed low oxygen saturation (SpO2) at the pulse oximetry (86-88%). The CD43 Phe residue is found at the CD1 helical region in the heme pocket and is critical in maintaining the heme in the proper position for interaction with globin chains.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Hyperunstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37826 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Casale M, Cozzolino F, Scianguetta S, Pucci P, Monaco V, Sanchez G, Santoro C, Rubino R, Cannata M, Perrotta S, Hb Vanvitelli: A new unstable α-globin chain variant causes undiagnosed chronic haemolytic anaemia when co-inherited with deletion - α., Clin. Biochem., 74(0), 80-85, 2019