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. Author manuscript; available in PMC: 2021 Jul 1.
Published in final edited form as: Trends Neurosci. 2020 May 11;43(7):505–518. doi: 10.1016/j.tins.2020.05.002

Figure 3: Disease-related mutations in Trio and Kalirin.

Figure 3:

Mutations in Trio are associated with several neurological disorders. A majority of ASD/ID mutations occur in the first GEF domain, with an additional hotspot located in the second to last spectrin repeat. The top Trio row depicts missense mutations, the second and third rows depict nonsense mutations and copy number variants. The Asterix indicates a premature stop codon. Fewer disease-associated mutations have been identified in Kalirin. Abbreviations: DH, Dbl homology; PH, Pleckstrin homology; SH3, Src homology 3; FnIII, Fibronectin type III; IG, Immunoglobulin; GEF, Guanine nucleotide exchange factor; PDZ, Postsynaptic density-95/discs large/zona occludens.