ABSTRACT
HbVar (https://globin.bx.psu.edu/hbvar/">https://globin.bx.psu.edu/hbvar/) and HOPE (https://www.cmbi.ru.nl/hope/">https://www.cmbi.ru.nl/hope/) are relational databases for genetic disorders, especially hemoglobinopathies. Genetic variants of thalassemia have impacts on its severity. Here, we report exon β-globin mutations in Indonesian ethnic groups, including structural and functional analysis. HbVar identified three codons, namely Cd 15 (G>A), Cd 17 (A>T), and Cd 30 (AGG>AGC), with transition and transversion mutations. Structural and functional alterations were analyzed using HOPE. Mutants mainly result in hydrophobicity alteration. Functionally, heme, iron, and oxygen binding of globin depend on the type of mutation. Some databases provide information about thalassemia and its related aspects. Updates of inter-related databases depend on later mutation found in populations, which will be useful for research, diagnostic, and therapeutic purposes.
Keywords: HbVar, HOPE, β-thalassemia, Indonesian ethnic groups
