Skip to main content

Table 1 FOXP1 mutations in this cohort

From: Prospective investigation of FOXP1 syndrome

ID Coding DNA change Protein change Genomic change Effect Inheritance
S1 c.975-2A>C p.Lys325Asnfs*12 chr3:g.71050212T>G Splice-site De novo
S2a c.1267_1268delGT p.Val423Hisfs*37 chr3:g.71027059_71027060delAC Frameshift De novo
S3 c.1333_1335delinsAA p.Val445Asnfs*29 chr3:g.71026992_71026994delinsTT Frameshift De novo
S4b c.1393A>G p.Arg465Gly chr3:g.71026829T>C Missense De novo
S5 c.1506C>G p.Phe502Leu chr3:g.71026116G>C Missense De novo
W1c c.1014dupA p.Ala339Serfs*4 chr3:g.71050171dupT Frameshift De novo
W2 c.1240delC p.Leu414* chr3:g.71027087delG Nonsense Unknown
W3 c.1409A>G p.Tyr470Cys chr3:g.71026813T>C Missense De novo
W4 c.1590_1601delAGGGGCAGTATG p.Gly531_Trp534del chr3:g.71021757_71021768delCATACTGCCCCT In-frame deletion De novo
  1. cDNA (NM_032682.5), protein (NP_116071.2/Q9H334–1), and genomic (GRCh37/hg19) changes are shown. Asterisks indicate stop codons
  2. aIndividual S2 was previously reported by Lozano et al. (2015) [4]
  3. bIndividual S4 was previously reported by Sollis et al. (2016) (subject 1) [5]
  4. cIndividual W1 was previously reported by O’Roak et al. (2011) (subject 12817.p1) [10], without clinical description