Table 1.
Novel and known rare missense variants (MAF <0.01) in the coding sequence of PTK7 gene detected in this study
| Nucleotide change | rs ID | aa change | NTD(192)/Control(190) | PolyPhen prediction | SIFT prediction | Uniprot domain | ExAC counts(frequency) | gnomAD counts(frequency) |
|---|---|---|---|---|---|---|---|---|
| c.557C>T | rs767634504 | p.Thr186Met | 1/0 | Benign | TOLERATED | Ig‐like C2‐type 2 | 7/122,018 (5.8e‐5) | 19/276,314(6.876e‐5) |
| c.1888C>A | NA | p.Arg630Ser | 1/0 | Possibly damaging | TOLERATED | Ig‐like C2‐type 7 | ND | ND |
| c.2174A>T | NA | p.Tyr725Phe | 1/0 | Possibly damaging | TOLERATED | Transmembrane | ND | 1/246,014(4.05e‐6) |
| c.811C>T | rs763808505 | p.Arg271Cys | 0/1 | Probably damaging | TOLERATED | Ig‐like C2‐type 3 | 2/122,736(1.7e‐5) | 3/246,158(1.219e‐5) |
| c.881G>A | rs748100799 | p.Arg294His | 0/1 | Probably damaging | DAMAGING | Ig‐like C2‐type 3 | 2/122,378 (1.7e‐5) | 11/245,966(4.472e‐5) |
| c.2024C>T | rs79644111 | p.Thr675Met | 1/1 | Probably damaging | TOLERATED | Ig‐like C2‐type 7 | 76/122,412(6.3e‐4) | 215/277,052(7.76e‐‐4) |
| c.2236A>C | rs150631466 | p.Met746Leu | 2/1 | Benign | TOLERATED | 97/114,576(8.5e‐4) | 241/274,626(8.776e‐4) | |
| c.2566G>A | NA | p.Ala856Thr | 0/1 | Benign | TOLERATED | Protein kinase | ND | ND |
| c.3113G>A | rs34865794 | p.Arg1038Gln | 2/1 | Benign | TOLERATED | Protein kinase | 1676/122,412(1.4e‐2) | 4,132/276,228(1.429e‐2) |
Bold value indicates case specific variants which are predicted to be damaging by PolyPhen.