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. 2019 Dec 31;29(4):618–623. doi: 10.1093/hmg/ddz303

Figure 1.

Figure 1

The segregation, conservation and 3D modeling of the SLC6A6 pathogenic variant Gly399Val in family F315. (A) Pedigree of consanguineous family F315 showing the segregation of the homozygous pathogenic variant NM_003043.5:c.1196G > T:p.(Gly399Val) in the SLC6A6 gene. (B) Chromatograms of Sanger sequencing showing the segregation of the SLC6A6 variant c.1196G > T:p.(Gly399Val) in all family members tested. (C) Amino acid alignment in various species showing that Gly399 is well conserved. (D) Molecular modeling of the SLC6A6 variant Gly399Val indicating that Val399 is predicted to cause the displacement of the Tyr138 (TM3) side chain, which is important for recognition and transport of the ligand.