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PDIA1 dysregulation is a common trait in numerous pathophysiological conditions, including neurodegenerative disorders and cancerous diseases. The 1178A&gt;G mutation of the human PDIA1\u2010encoding gene is a non\u2010synonymous single nucleotide polymorphism detected in patients with Cole\u2010Carpenter syndrome type 1 (CSS1), a particularly rare bone disease. <jats:italic>In vitro<\/jats:italic> studies showed that the encoded variant (PDIA1 Y393C) exhibits limited oxidoreductase activity. To gain knowledge on the structure\u2013function relationship, we undertook a molecular dynamics (MD) approach to examine the structural stability of PDIA1 Y393C. Results showed that significant conformational changes are the structural consequence of the amino acid substitution Tyr&gt;Cys at position 393 of the PDIA1 protein. 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