Fig. 5

Result of detailed SNP analysis of SLC29A3 S158F. a Domain architecture of SLC29A3. The protein has 11 transmembrane helices and SLC29A3 S158F (red lollipop) lies between TM3 and TM4 which is localized extracellularly. Residues 169-473 correspond to the nucleoside transporter domain (Pfam:PF01733). b Multiple alignment using all four members in the SLC29 gene family i.e. SLC29A1-4. Orthologs of each member were retrieved using Orthologue search on ANNOTATOR [25]. MAFFT with L-INS-i was used to create the multiple alignment. c Homology model of SLC29A3 created by Memoir based on the template of a crystal structure of the glycerol-3-phosphate transporter from E. coli (PDB ID: 1PW4 chain A). This template was retrieved using HHPRED against PDB on ANNOTATOR [e-value = 1.7e-08]. d Screen shot of the FoldX result showing wild type and after mutation. The SNP was predicted to be stabilizing on protein structure (average ddG run over 5 times = − 1.14 kcal/mol SD = 0.04)