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CoagVDb: a comprehensive database for coagulation factors and their associated SAPs
Ali, Shabana Kouser; George Priya Doss, C; Thirumal Kumar, D; Zhu, Hailong.
  • Ali, Shabana Kouser; VIT University. School of Biosciences and Technology. Vellore. IN
  • George Priya Doss, C; VIT University. School of Biosciences and Technology. Vellore. IN
  • Thirumal Kumar, D; VIT University. School of Biosciences and Technology. Vellore. IN
  • Zhu, Hailong; Hong Kong Baptist University. Department of Computer Sciences. Kowloon Tong. HK
Biol. Res ; 48: 1-8, 2015. graf
Artigo em Inglês | LILACS | ID: biblio-950799
ABSTRACT
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.
Assuntos


Texto completo: DisponíveL Índice: LILACS (Américas) Assunto principal: Fatores de Coagulação Sanguínea / Biologia Computacional / Substituição de Aminoácidos / Análise de Sequência de Proteína / Polimorfismo de Nucleotídeo Único Tipo de estudo: Estudo prognóstico / Fatores de risco Limite: Humanos Idioma: Inglês Revista: Biol. Res Assunto da revista: Biologia Ano de publicação: 2015 Tipo de documento: Artigo País de afiliação: Hong Kong / Índia Instituição/País de afiliação: Hong Kong Baptist University/HK / VIT University/IN

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Texto completo: DisponíveL Índice: LILACS (Américas) Assunto principal: Fatores de Coagulação Sanguínea / Biologia Computacional / Substituição de Aminoácidos / Análise de Sequência de Proteína / Polimorfismo de Nucleotídeo Único Tipo de estudo: Estudo prognóstico / Fatores de risco Limite: Humanos Idioma: Inglês Revista: Biol. Res Assunto da revista: Biologia Ano de publicação: 2015 Tipo de documento: Artigo País de afiliação: Hong Kong / Índia Instituição/País de afiliação: Hong Kong Baptist University/HK / VIT University/IN