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Table 2 Summary of functional characterization of rare FOXP2 variants in individuals with neurodevelopmental disorders

From: Functional characterization of rare FOXP2 variants in neurodevelopmental disorder

Varianta Localization Transcriptional repression Dimerization with FOXPs Interaction with CTBPs Role in disorderb
   SV40 SRPX2 FOXP2 FOXP1 FOXP4 CTBP1 CTBP2  
p.Q17L + + + + + + + + Incidental
p.M406T + + + + + + + + Incidental
p.P416T + + + + + + + + Incidental
p.R553H Causal
p.N597H + + + + + + + + Incidental
p.R328* Causal
P.Q390Vfs*7 Causal
  1. + Behaviour of the variant is comparable to that of the wild-type protein in this assay, − Behaviour of the variant differs from that of the wild-type protein in this assay
  2. aVariants are described in accordance with Human Genome Variation Society recommendations (www.hgvs.org/mutnomen, accessed June 2016) with reference to the major transcript NM_014491.3 (ENST00000350908)
  3. bProbable role of the variant in the disorder in the affected individual, based on the results of functional characterization