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Fig. 4 | BMC Medical Genomics

Fig. 4

From: Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation

Fig. 4

Sanger sequencing of the DYNC1H1 variant. (a) Results of Sanger sequencing show the DYNC1H1 mutation (c.587T > C, p.Leu196Ser) in the proband, his mother, and 2 uncles. (b) Amino acid sequence alignment of DYNC1H1 protein from different species reveals that the Leu196 residue is highly conserved. (c) Three-dimensional structure of the analogous region of the human cytoplasmic dynein N-terminal dimerisation domain. The yellow dotted lines represent the hydrogen bond

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BMC Medical Genomics

ISSN: 1755-8794

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