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Fig. 5 | BMC Medical Genomics

Fig. 5

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. 5

Schematic representation of DYNC1H1 protein structure and 105 likely pathogenic or pathogenic missense variants in the ClinVar database. DYNC1H1-NMD variants (dark red) are mainly located in the tail region, predominantly within the dimerisation domain, whereas DYNC1H1-NDD variants (blue) are primarily distributed in the motor region. Four variants (p.R598C, p.Y1057C, p.R1201S, and p.R1962H) are shown in both colours because their phenotypes overlap. Variants that are not associated with definitive phenotypes were shown in black. The novel variant (p.L196S) identified in this study is shown in red bold type. Abbreviations: DYNC1H1-NMD, DYNC1H1 neuromuscular disorder; DYNC1H1-NDD, DYNC1H1 neurodevelopmental disorder; MTBD, microtubule-binding domain

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