Fig. 1
From: Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report
Variants associated with neurodevelopment disorder in TRIO. Schematic of protein domains of human TRIO (NM_NM_007118.3). Variants discussed in this report are in black. Variants associated with microcephaly are in blue; microcephaly-associated frameshift/nonsense variants span the gene, while microcephaly-associated missense variants cluster in the GEF1 domain. Macrocephaly-associated missense variants cluster in the Spectrin repeats domain. With the exception of current patient 1 described here, all frameshift/nonsense variants have to date been associated with microcephaly