MutDB: annotating human variation with functionally relevant data
MutDB: annotating human variation with functionally relevant data
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DOI：
10.1093/bioinformatics/btg241
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发表时间：
2003-09-22
期刊：
影响因子：
5.8
通讯作者：
Altman, RB
中科院分区：
文献类型：
--
作者：
Mooney, SD;Altman, RB
我们开发了一个资源MutDB（http：//mutdb.org/），以帮助确定哪些单核苷酸多态性（SNP）可能改变其相关蛋白质产物的功能。MutDB包含UCSC注释基因组和人类RefSeq基因组中发现的8000种疾病相关突变和SNP的蛋白质结构注释和比较基因组注释。MutDB在基因和蛋白质水平上提供交互式突变图，并允许基于多序列比对中的保守性对其预测的功能后果进行排名。
We have developed a resource, MutDB (http://mutdb.org/), to aid in determining which single nucleotide polymorphisms (SNPs) are likely to alter the function of their associated protein product. MutDB contains protein structure annotations and comparative genomic annotations for 8000 disease-associated mutations and SNPs found in the UCSC Annotated Genome and the human RefSeq gene set. MutDB provides interactive mutation maps at the gene and protein levels, and allows for ranking of their predicted functional consequences based on conservation in multiple sequence alignments.