Table 1.
Identified rare variants in SAPAP3 and predicted functional relevance
| Detected nonsynonymous variants | Analyzed samples |
Prediction algorithms |
||||
|---|---|---|---|---|---|---|
| 121 Duke TTM and NIMH OCD w TTM |
44 NIMH OCD w/o TTM |
48 NIMH controls |
130 Duke controls |
PMuta | PolyPhena | |
| R13C; c.38C > T | 1 | 0 | 0 | 0 | Pathological | Possibly damaging |
| A148insGPAGA; c.441_442ins GGGCCAGCAGGGGCA |
0 | 1 | 0 | 0 | NAb | NAb |
| T156M; c.467C > T | 0 | 0 | 0 | 1 | Neutral | Benign |
| A189V; c.566C > T | 1 | 1 | 0 | 1 | Neutral | Benign |
| T523K; c.1569-70CC > AA | 1 | 0 | 0 | 0 | Pathological | Possibly damaging |
| P606T; c.1816C > A | 0 | 1 | 0 | 0 | Neutral | Possibly damaging |
| K910R; c.2728A > G | 1 | 0 | 0 | 0 | Neutral | Benign |
| Combined allele frequencies | 7/330 TTM and OCD (2.1%) | 2/356 controls (0.56%) | ||||
Abbreviations: NA, not applicable; NIMH, National Institute of Mental Health; OCD, obsessive–compulsive disorder; TTM, trichotillomania.
a
PMut:http://mmb2.pcb.ub.es:8080/PMut; PolyPhen:http://genetics.bwh.harvard.edu/pph.
b
Prediction of the effects of in/dels is not possible with PMut and PolyPhen, but a functional effect is likely for a five amino acid insertion.