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Unravel the pathogenicity of C-terminal domain COPA mutations
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2023-12-11
相关数据集
Additional file 5: of Systematic analysis of the intersection of disease mutations with protein modifications
Disease SNPs overlapping with PTM sites. (XLSX 85 kb)
Figshare2024-02-13 更新60
Structural and functional consequences of non-synonymous SNPs within the LAMA2 protein: a molecular dynamics perspective
Clinical phenotypic presentations associated with LAMA2 deficiency have shown a variety of manifestations. LAMA2 mutations are mainly linked to congenital muscular dystrophy, but there is also mountin
Figshare2024-11-10 更新30
Crystal Structure of FGF Receptor 2 (FGFR2) Kinase Domain Harboring the Pathogenic K526E Mutation Responsible for Crouzon Syndrome
Crystal Structure of FGF Receptor 2 (FGFR2) Kinase Domain Harboring the Pathogenic K526E Mutation Responsible for Crouzon Syndrome Descriptor: Fibroblast growth factor receptor 2, MAGNESIUM ION, PHOSP
Protein Data Bank Japan2023-08-30 更新30
Crystal Structure of FGF Receptor 2 (FGFR2) Kinase Domain Harboring the Pathogenic N549H Mutation Responsible for Crouzon Syndrome.
Crystal Structure of FGF Receptor 2 (FGFR2) Kinase Domain Harboring the Pathogenic N549H Mutation Responsible for Crouzon Syndrome. Descriptor: Fibroblast growth factor receptor 2, PHOSPHOMETHYLPHOSPH
Protein Data Bank Japan2023-08-30 更新30
