Additional file 1 of Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD
Creators: name: Jaouadi, Hager
name: Jopling, Chris
name: Bajolle, Fanny
name: Théron, Alexis
name: Faucherre, Adèle
name: Gerard, Hilla
name: Al Dybiat, Sarab
name: Ovaert, Caroline
name: Bonnet, Damien
name: Avierinos, Jean-François
name: Zaffran, Stéphane
Publisher: name: figshare
Year: 2023
Subjects: subject: Genetics
subject: FOS: Biological sciences

description: Additional file 1. Figure S1: Overview of ROBO1 protein in ribbon presentation. The protein is colored by element: α-helix=blue, β-strand = red, turn=green, 3/10helix=yellow, and random coil=cyan. Figure S2: Close-up of the ROBO1: p.Val610Ile variant. The protein is colored in grey, the side chain of the mutated residue is in magenta and shown as small balls. The protein is colored grey, the side chains of both the wild-type and the mutant residue are shown and colored green and red respectively Figure S3: Overview of ROBO2 protein in ribbon presentation. The protein is colored by element: α-helix=blue, β-strand = red, turn=green, 3/10 helix=yellow, and random coil=cyan. Other molecules in the complex are colored grey when present. Figure S4: Close-up of the ROBO2: p.Arg811Trp variant. The protein is colored grey, and the side chains of both the wild-type and the mutant residue are shown and colored green and red respectively. Figure S5: Overview of ROBO3 protein in ribbon presentation. The protein is colored by element: α-helix=blue, β-strand = red, turn=green, 3/10helix=yellow, and random coil=cyan. Figure S6: Close-up of the ROBO3: p.Thr323Met variant. The protein is colored grey, and the side chain of the mutated residue is colored magenta and shown as small balls. The side chains of both the wild-type and the mutant residue are shown and colored green and red respectively. Figure S7: Close-up of the ROBO3: p.Arg539Trp variant. Figure S8: Close-up of the ROBO3: p.Pro859Gln variant. Figure S9: Overview of ROBO4 protein in ribbon presentation. The protein is colored by element: α-helix=blue, β-strand = red, turn=green, 3/10helix=yellow, and random coil=cyan. Figure S10: Close-up of the ROBO4: p.Ala303Asp variant. The protein is colored grey and the side chains of both the wild-type and the mutant residue are shown and colored green and red respectively. The side chain of the mutated residue is colored magenta and shown as small balls. Figure S11: Overview of SLIT1 protein in ribbon presentation. The protein is colored by element: α-helix=blue, β-strand = red, turn=green, 3/10helix=yellow, and random coil=cyan. Figure S12: Close-up of the SLIT1: p.Pro149Leu variant. The side chain of the mutated residue is colored magenta and shown as small balls Figure S13: Close-up of the SLIT1: p.Arg455Ser variant. The side chain of the mutated residue is colored magenta and shown as small balls. Figure S14: Overview of SLIT3 protein in ribbon presentation. The protein is colored by element: α-helix=blue, β-strand = red, turn=green, 3/10helix=yellow, and random coil=cyan. Figure S15: Close-up of the SLIT3: p.Ser629Asn variant. The side chain of the mutated residue is colored magenta and shown as small balls.