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. Author manuscript; available in PMC: 2014 Aug 26.
Published in final edited form as: J Med Genet. 2009 Jun 8;46(8):562–568. doi: 10.1136/jmg.2008.065201

Figure 4.

Figure 4

Identification of the missense mutation (c.193A>C, p.T65P) in family members of patient 3. (A) Heterozygous c.193A>C mutation in the family members. (B) Hydrophobicity plot of the human SLC35D1 protein and the position of T65. The plot was based on a calculation using the hydrophobicity values of Kyte and Doolittle. The x axis represents the amino acid position within the SLC35D1, and the y axis represents the hydrophobicity values of the amino acids. SLC35D1 is predicted to have 10 transmembrane domains (thick horizontal bars). T65 is predicted to be located in the first intra-ER domain. (C) Comparison of the amino acid sequences around T65 of SLC35D1 among various species. Amino acids identical to human SLC35D1 are represented by blue letters and those not identical by red letters. The location of T65 is indicated by an arrow and orange shading. T65 is highly conserved.