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Structure of the human CRLF1 gene and protein. (a) Relative positions of the mutations found in both CS and CISS1. (b) Alignment and amino-acid conservation for both Crisponi and CISS syndrome missense mutations analyzed. SIFT (Sorting Intolerant From Tolerant; http://sift.jcvi.org/) predicted that mutations Y75D, W76G, [N113I;L114P], W284C and L374R are not tolerated, whereas R81H is tolerated. Pink: CS mutations, green: CISS1 mutations.
