IthaID: 538
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 45 CAC>CAG [His>Gln] | HGVS Name: | HBA2:c.138C>G |
| Hb Name: | Hb Bari | Protein Info: | α2 45(CE3) His>Gln |
Context nucleotide sequence:
GGGCAGAGCCGTGGCTCAGGTCGAA [C/G] TGCGGGAAGTAGGTCTTGGTGGTGG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPQFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Initially detected in a young male of southern Italian origin (Calabria) as an electrophoretically silent hemoglobin (Hb) variant using citrate agar electrophoresis and DEAE-cellulose column chromatography. Separation of the abnormal α chains was achieved by CM-cellulose column chromatography. Identified as a His to Gln substitution at position 45 in the α-chain of Hb Bari, affecting a distal heme contact, by peptide mapping and amino acid analysis [PMID: 7378457]. Identified by sequencing analysis as a c.138C>G change in the HbA2 gene in an otherwise clinically healthy individual from north-eastern Spain (Zaragoza) [PMID: 38075166].
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34030 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Italian, Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Marinucci M, Mavilio F, Tentori L, D'Erasmo F, Colapietro A, de Stasio G, Di Fonzo S, A new human hemoglobin variant: Hb BARI (alpha 2 45 (CD3) His leads to Gln beta 2)., Biochim. Biophys. Acta , 622(2), 315-9, 1980
- Lahoz Alonso R, Romero Sánchez N, González Sánchez R, Escobar Medina A, López Martos AM, Domínguez García M, Beneitez Pastor D, Prieto Grueso M, Blanco Álvarez A, Urban Giralt S, Esteve Alcalde P, Incidental finding of rare hemoglobin: hemoglobin Bari in northeast Spain., Adv Lab Med, 4(3), 321-325, 2023