Extreme conservation and rare evolutionary deviations in mammalian NOTCH3 inform the interpretation of CADASIL pathogenicity
These findings provide a comparative molecular-pathology framework for interpreting NOTCH3 variation beyond cysteine number alone and support a context-dependent model in which residue position, disulfide architecture, surrounding sequence, domain organization, aggregation propensity, and proteolytic regulation jointly...
K. S. Siddiqui, H. Ertan, Yi Ren et al.
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