Fig. 2: Comparison of known and novel mutations in EML1. | Journal of Human Genetics

Fig. 2: Comparison of known and novel mutations in EML1.

From: A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects

Fig. 2

A Tolerance landscape analyses applying MetaDome showed tolerant (blue), neutral (yellow), and intolerant (red) regions for missense variants. B Schematic representation of domains of the EML1 protein located to newly identified mutation (M3: p.Gly231Asp) to the HELP motive (green) of EML1. Previously reported EML1 mutations are shown (NC1: p.Arg138*, MC1: p.Thr243Ala, M2: p.Trp225Arg, N2: p.Arg523*, M4: p.Val254Met, MC2: p.Gly439Asp/p.Gly478Val) [11, 27, 28]. C The EML1 protein contains two β-propeller structures building the TAPE domain (yellow) intimately associated with HELP motif (green). The presented EML1 structure includes the protein structure from amino acid 175 to 815 (NP_004425.2). Previously reported mutation sites located in the HELP motif are highlighted as ball-and-stick model in the 3D model and in the zoomed-in area. LC low complexity region, CC coiled coil region, HELP hydrophobic EMAP-like protein motif (green), WD WD40 repeats, N nonsense, M missense, C compound heterozygous mutations, 1–4—patient’s number

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