Figure 1 | European Journal of Human Genetics

Figure 1

From: A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

Figure 1

Semaphorin phylogeny and structure. (a) Primary structures of the semaphorin family in mammals. (b) Structure of the SEMA5A protein and locations of the coding variants (c.2026C>T, c.2852C>G, c.2866A>G, c.2983C>T). The microdeletion identified in this study is indicated in red and the star represents the de novo missense variant (c.2852C>G) reported by Lossifov et al.35 The conservation of the amino acids is indicated for different species. TM, transmembrane domain; TSP, thrombospondin repeat.

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