Statistics
The number of residues in each topology region
All amino acid residue positions of SLC transporters were classified into five topological regions R1-5 defined in this database.
R1: extracellular region
R2: border between outside and transmembrane region (±2 AA
R3: transmembrane region
R4: border between transmembrane region and cytosole (±2 AA)
R5: cytosolic region
Topology prediction is based on TOPCONS2 (http://topcons.cbr.su.se/pred/news/).
The number of residues in each region is shown by bar graph.
The number of pathogenic mutations in each region
The pathogenic missense mutations were extracted from the database, and classified into topology regions. 'Likely pathogenic' and 'risk factor' was included in 'Pathogenic'. The number of mutations in each region is shown by bar graph.
The number of non-pathogenic mutations in each region
The non-pathogenic missense mutations were extracted from the database, and classified into topology regions. 'Benign' and 'Likely benign' was included in 'Non-pathogenic'. The number of mutations in each region is shown by bar graph.
Log odds ratio of pathogenic mutations
The count of pathogenic mutations in topological regions was shown by bar graph in log odds. The frequency of the disease-causing mutations in each topological region was divided by the frequency of the residues in the whole SLC transporters in the same topological region, and shown in logarithm scale (base 2).
Log odds ratio of non-pathogenic mutations
The count of non-pathogenic mutations in topological regions was shown by bar graph in log odds. The frequency of the non-disease mutations in each topological region was divided by the frequency of the residues in the whole SLC transporters in the same topological region, and shown in logarithm scale (base 2).
Mutation type
The summary of mutation type for all reported variants found in SLC transporters is shown in pie chart. A substitution means a missense mutation that the amino acid residue in that position changes. The number of variants is 2,484 (as of Sep.2017).
Clinical significance
The detail of the clinical significance of all reported variants found in SLC transporter is shown in pie chart. The descriptions are from the clinical significance in ClinVar. The number of variants is 2,484 (as of Sep.2017). Pathogenic mutation may be oversampled for its clinical interest.
