An examination of the OMIM database for associating mutation to a consensus reference sequence
Protein & Cell
;
(12): 198-203, 2012.
Artigo
em Inglês
| WPRIM
| ID: wpr-757279
ABSTRACT
Gene mutation (e.g. substitution, insertion and deletion) and related phenotype information are important biomedical knowledge. Many biomedical databases (e.g. OMIM) incorporate such data. However, few studies have examined the quality of this data. In the current study, we examined the quality of protein single-point mutations in the OMIM and identified whether the corresponding reference sequences align with the mutation positions. Our results show that close to 20% of mutation data cannot be mapped to a single reference sequence. The failed mappings are caused by position conflict, site shifting (peptide, N-terminal methionine) and other types of data error. We propose a preliminary model to resolve such inconsistency in the OMIM database.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Dados de Sequência Molecular
/
Sequência Consenso
/
Alinhamento de Sequência
/
Sequência de Aminoácidos
/
Mutação Puntual
/
Bases de Dados Genéticas
Idioma:
Inglês
Revista:
Protein & Cell
Ano de publicação:
2012
Tipo de documento:
Artigo
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