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Updated: Apr 11, 2026

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使用在线工具预测致病性误解变异的In-Silico方法:AURKA基因作为模型

Eric Jonathan Maciel-Cruz1,2, Luis Eduardo Figuera-Villanueva1,2, Liliana Gómez-Flores-Ramos3

  • 1Doctorado en Genética Humana, Instituto de Genética Humana "Dr. Enrique Corona Rivera", Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara (UdG), Guadalajara, Jalisco, México.

Iranian journal of biotechnology
|September 2, 2024
PubMed
概括

在分析提供了一个快速,免费的方法来识别潜在的致病性单核酸变体. 这项研究提出了一种使用AURKA基因来预测变体致病性的计算方法,有助于进一步的研究.

关键词:
计算生物学 计算生物学基因组结构变异没有意义的突变.一个单核酸多态性多态性.

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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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