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Fig. 2 | Molecular Autism

Fig. 2

From: De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

Fig. 2

MTR-plot of CACNA1E, reflecting intolerance of CACNA1E segments to missense variations. Horizontal dashed lines show CACNA1E MTR percentiles 5th (green line), 25th (yellow line) and 50th (black line), and the solid black line indicates mean MTR value of a given CACNA1E segment, intersegment and interdomain. Segments S6 in Domains I and II, intersegment S4-S5 of Domain I as well as ends of Domains I and III, highlighted in dark red color, are considered highly intolerant to missense variation, as their MTR value is below 5th percentile with FDR < 0.1. Regions in darker brown color are considered as being under purifying selection as their mean MTR < 1 and FDR < 0.1 (S: segment, D: domain, ID: inter-domain)

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Molecular Autism

ISSN: 2040-2392