Table 1.
Prediction of functional effect of Slit- and Trk-like (Slitrk) mutations using four different bioinformatics tools.
| Gene | amino acid change | Cohort | PolyPhen-2 | PROVEAN | Mutation Assessor | PANTHER |
Reference | |
|---|---|---|---|---|---|---|---|---|
| SubPSEC Score | Pdeleterious | |||||||
| Slitrk1 | V85M | n.a. | Possibly damaging (0.855) | Neutral (-0.968) | Medium (2.31) | n.d. | n.d. | This study |
| Slitrk1 | N400I | TS | Benign (0.162) | Deleterious (-2.943) | Low (1.93) | -2.40948 | 0.35652 | Ozomaro et al., 2013 |
| Slitrk1 | T418S | TS | Benign (0.115) | Neutral (-0.274) | Neutral (0.505) | n.d. | n.d. | Ozomaro et al., 2013 |
| Slitrk1 | R584K | TTM | Benign (0) | Neutral (0.220) | Neutral (-0.485) | -0.25178 | 0.06019 | Zuchner et al., 2006 |
| Slitrk1 | S593G | TTM | Benign (0.014) | Neutral (-1.596) | Medium (2.28) | -1.94135 | 0.25757 | Zuchner et al., 2006 |
| Slitrk2 | R32L | SCZ | Benign (0.035) | Neutral (0.487) | Neutral (0.415) | n.d. | n.d. | Piton et al., 2011 |
| Slitrk2 | V89M | SCZ | Probably damaging (0.984) | Neutral (-0.932) | Low (1.545) | -2.59958 | 0.40121 | Piton et al., 2011 |
| Slitrk2 | S549F | SCZ | Benign (0.203) | Deleterious (-2.957) | Low (0.985) | -3.12094 | 0.5302 | Piton et al., 2011 |
| Slitrk2 | S601P | ASD | Benign (0) | Neutral (-0.205) | Neutral (0.5) | -1.47548 | 0.1788 | Piton et al., 2011 |
| Slitrk2 | L626F | SCZ | Probably damaging (1) | Deleterious (-2.780) | Medium (1.975) | n.d. | n.d. | Piton et al., 2011 |
| Slitrk4 | V206I | SCZ | Probably damaging (0.998) | Neutral (-0.404) | Neutral (0.6) | n.d. | n.d. | Piton et al., 2011 |
| Slitrk4 | I578V | SCZ | Benign (0.012) | Neutral (0.173) | Neutral (0.425) | n.d. | n.d. | Piton et al., 2011 |
ASD, Autism spectrum disorder; n.a., not applicable; n.d., not determined; PANTHER, Protein Analysis Through Evolutionary Relationships; PolyPhen-2, Polymorphism Phenotyping v2; PROVEAN, Protein Variation Effect Analyzer; SCZ, Schizophrenia; SIFT, Sorting Intolerant From Tolerant; TS, Tourette’s syndrome; TTM, Trichotillomania.