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3D structures of 34 unique HS-linked mutations in NCSTN, PSEN1, PSENEN and POGLUT1 by SWISS-MODEL. Control WT protein is framed. Most of the HS-linked nonsense, frameshift and splice site mutations resulted in marked 3D structure change, consistent with loss of function. A C-terminal end frameshift mutation NCSTN-E584DfsX44 resulted in striking 3D structural change, while another nearby downstream frameshift mutation p.590AfsX3 (six amino acids apart) caused only minor 3D change.
