IthaID: 538

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 45 CAC>CAG [His>Gln] HGVS Name: HBA1:c.138C>G | HBA2:c.138C>G
Hb Name: Hb Bari Protein Info: α2 or α1 45(CE3) His>Gln

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34030 or 37834
Size: 1 bp or 1 bp
Located at: α1 or α2
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: No

In silico pathogenicity prediction

Publications / Origin

  1. 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
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-27 12:47:19 (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.