Table 3 Functions of OBSCN mutations in patients with CPAM
Patient number | Variants | Effect | AF in ExAC | Allele Frequency in 1000 Genome Project | Polyphen2_HDIV | SIFT | Provean | phyloP |
|---|---|---|---|---|---|---|---|---|
7 | p.G1126S | nonsynonymous | 0.0002 | probably damaging (0.997) | damaging (0.029) | deleterious (-3.57) | deleterious (0.998000) | |
p.G8837A | nonsynonymous | 0 | probably damaging (1.0) | tolerated (0.057) | deleterious (-2.82) | deleterious (0.977000) | ||
9 | p.R5167W | nonsynonymous | 0.0011 | 0.0024 | probably damaging (0.999) | damaging (0.019) | deleterious (-2.78) | deleterious (0.935000) |
p.A7475T | nonsynonymous | 0.0004 | benign (0.0) | tolerated (1.0) | neutral (1.25) | deleterious (0.183000) |