RESUMEN
The current state of the art in medical genetics is to identify and classify the functional (deleterious) or non-functional (neutral) single amino acid substitutions (SAPs), also known as non-synonymous SNPs (nsSNPs). The primary goal is to elucidate the mechanisms through which functional SAPs exert their effects, and ultimately interrogating this information for association with complex phenotypes. This work focuses on coagulation factors involved in the coagulation cascade pathway which plays a vital role in the maintenance of homeostasis in the human system. We developed an integrated coagulation variation database, CoagVDb, which makes use of the biological information from various public databases such as NCBI, OMIM, UniProt, PDB and SAPs (rsIDs/variant). CoagVDb enriched with computational prediction scores classify SAPs as either deleterious or tolerated. Also, various other properties are incorporated such as amino acid composition, secondary structure elements, solvent accessibility, ordered/disordered regions, conservation, and the presence of disulfide bonds. This specialized database provides integration of various prediction scores from different computational methods along with gene, protein, and disease information. We hope our database will act as a useful reference resource for hematologists to reveal protein structure-function relationship and disease genotype-phenotype correlation.
Asunto(s)
Humanos , Factores de Coagulación Sanguínea/genética , Biología Computacional , Sustitución de Aminoácidos/genética , Análisis de Secuencia de Proteína , Polimorfismo de Nucleótido Simple , Fenotipo , Bases de Datos Factuales , GenotipoRESUMEN
This research has been conducted to study the effects of child labour on the attitudes and adjustment of children up to the age of 15 years. The total number of respondents was 120 [60 working and 60 non-working], belonged to different areas of Multan city. Rotter Incomplete Sentences Blank alongwith a demographic information questionnaire was administered to both groups to see their adjustment and attitude. For the analysis of data z-test and chi-square were applied. It was revealed that working children were maladjusted, had negative attitude toward themselves, others home and future as compared to non-working children