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. Author manuscript; available in PMC: 2021 Jul 31.
Published in final edited form as: J Med Genet. 2020 Aug 20;58(7):484–494. doi: 10.1136/jmedgenet-2020-106987

Figure 2.

Figure 2

Functional analysis of the CIC variant. (A) Protein amino acid locus of variant p.R353X, which is predicted to create premature stop codons. Lollipop plot shows all four CIC mutants identified in our CFD cohort.56 (B) Localisation of GFP tagged CIC variants in stably transfected HeLa cells. HeLa cells were transduced with lentiviral particles coding for GFP, GFP-CIC wildtype or GFP-CIC p.R353X. Subcellular localisation was analysed by microscopy for GFP and endogenous CIC. Nuclei were stained with DAPI, Bars, 20 μm. (C) Analysis of CIC p.R353X variant effect on interaction between CIC and KPNA3. Mutant CIC abolished interaction between CIC and KPNA3. (D) Analysis of CIC p.R353X variant effect on interaction between CIC and ATXN1. CFD, cerebral folate deficiency.