Fig. 2From: Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases(A) Close-up of the wild type Asp(D) and mutated Asn(N) amino acid residues at position 774 in SMC1A. The side chain of the wild-type and the mutant residue are shown and coloured green and red respectively. (B) predicted score for D774N by polyphen-2 (C) Conservation of D774 among different speciesBack to article page