Raw data of "Structural studies of KCTD1 and its disease-causing mutant P20S provide insights into the protein function and misfunction" Doi 10.1016/j.ijbiomac.2024.134390

Mendeley Data40

Influence of the alignment threshold on disease enrichment in correlated positions.

疾病相关突变分析

蛋白质序列比对

-values were computed using Fisher's exact test. As both selection methods achieve positive LOD score and highly significant -values this result indicates that disease-causing mutations are overrepres

NIAID Data Ecosystem20

Crystal structure of mouse Ryanodine Receptor 2 mutant V186M

心脏钙通道调控

疾病相关突变分析

Crystal structure of mouse Ryanodine Receptor 2 mutant V186M Descriptor: Cardiac Ca2+ release channel, SULFATE ION Authors: Van Petegem, F, Lobo, P.A. Deposit date: 2009-08-09 Release date: 2009-11-17

Protein Data Bank Japan2023-09-06 更新40

Structure of human dipeptidyl peptidase I (cathepsin C): exclusion domain added to an endopeptidase framework creates the machine for activation of granular serine proteases

蛋白质结构与功能研究

疾病相关突变分析

Dipeptidyl peptidase I (DPPI) or cathepsin C is the physiological activator of groups of serine proteases from immune and inflammatory cells vital for defense of an organism. The structure presented s

PubMed Central2001-12-03 更新30