Fig. 6
From: A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like
a Evolutionary conservation analysis. Protein sequences of Homo sapiens (NP_006715473), Pan troglodytes (NP_016812220), Mus musculus (NP_011241489), Macaca nemestrina (NP_011751944), Bos Taurus (NP_010806995), Sus scrofa (NP_013847930) were retrieved from protein BLAST. b Secondary structures of SYNE1 with native Gly 2304 residue and Arg mutation. The structures of nesprin-1 with native Gly 2304 residue and Arg mutation were generated by Raptor 3D prediction program. The wild-type and mutant residues were colored with white and blue. Mutation p.G2304R altered the side chain of residue at position 2304. (For interpretation of the references to color in this figure legend, the reader is referred to the Web version of this article). c DNA sequencing chromatograph of exon 46 of the SYNE1 gene (abnormal and normal), SYNE1 gene with a heterozygous mutation: c. 6910 A > G (p. G2304R). The arrow pointed the mutation