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The tubulin mutation database: A resource for the cytoskeleton community

机译：细胞蛋白突变数据库：细胞骨架社区的资源

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摘要

Over the last 40 years, the phenotypic consequences of point mutations to tubulin genes have been described in a wide variety of eukaryotes. A publicly available web-based catalog of all published point mutations to tubulin was assembled. Each entry records a specific substitution to a discrete tubulin, the species where the mutation was described, the associated phenotype, and provides hyperlinks to the parental amino acid sequence and citation(s) for the original research. The data is represented in individual tables for the universal tubulin families (alpha-, beta-, and gamma-tubulins) with the smaller datasets for point mutations to delta-, epsilon-, and zeta-tubulins individually appended to the gamma-tubulin mutation table. Because tubulins are highly conserved proteins, the benefit of organizing the database tables in order of amino acid position is that comparison between equivalent residues in different isotypes or species is straightforward. For example, it was shown that seven substitutions which are associated with human brain malformations known as tubulinopathies were previously identified in other contexts that suggest that they influence microtubule stability. It was anticipated that this resource will simplify evaluation of the role of specific amino acids or domains in microtubule function.
机译：在过去的40年中，已经在各种真核生物中描述了点突变对微管蛋白基因的表型后果。组装了将所有公开点突变的基于网络的基于网络的目录组装在一起。每个进入记录特定的替代到分立的小管蛋白，描述了突变的物种，相关的表型，并为原始研究的父母氨基酸序列和引文提供超链接。数据以通用小管蛋白家族（α-，β-和γ-管蛋白）的各个表格表示，具有较小的数据集，用于点突变与δ，epsilon-和Zeta-timulins单独附加到γ-小管蛋白突变中桌子。因为管蛋白是高度保守的蛋白质，所以按照氨基酸位置组织数据库表的益处是不同同种型或物种的等效残留物之间的比较是简单的。例如，结果表明，先前在表明它们影响微管稳定性的其他情况下鉴定出七种与人脑畸形相关的七种取代。预计该资源将简化对微管功能中特定氨基酸或域的作用的评价。

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