Novel variants and known questionably causative mutations of 263 patients with PP and 474 controls
| Exchange nucleotide amino acid | Index, n | Localisation | PolyPhen2 | Mutation taster | Conservation | dbSNP (KCNJ12) | Severity/ segregation | |
|---|---|---|---|---|---|---|---|---|
| Patients with PP | ||||||||
| –3G>A | – | 1 | Intron 2–3, no splice site predicted | No entry | –/– | |||
| 44T>C | L15S | 1 | N | – | + | – | 50 (1089) | –/– |
| 241C>T | R81C | 1 | N | + | + | + | No entry | –/0 |
| 759insT | E273X | 1 | C | NA | +/0 | |||
| 926C>T | T309I | 1 | C | + | + | + | No entry | –/– |
| 1019T>C | I340T | 1 | C | – | – | – | No info | +/0 |
| 1094A>G | N365S | 1 | C | – | + | + | No entry | –/0 |
| 1180G>A | G394R | 1 | C | – | – | – | No info | +/– |
| 1195C>T | R399X* | 1 | C | NA | –/– | |||
| 1201C>T | R401W | 1 | C | (+) | – | – | No entry | +/– |
| Controls | ||||||||
| –7C>T | – | 1 | Intron 2–3, no splice site predicted | No entry | NA | |||
| 44T>C | L15S | 2 | N | – | + | – | 50 (1089) | NA |
| 100G>A | G34S | 1 | N | (+) | + | + | No entry | NA |
| 242G>C | R81P | 1 | N | + | + | + | No entry | NA |
| 578C>T | T193M | 1 | C | + | + | + | No info | NA |
| 754G>A | D252N | 3 | C | – | + | – | No info | NA |
| 782G>A | R261H | 1 | C | + | + | + | No info | NA |
| 759insT | E273X | 3 | C | – | + | – | No entry | NA |
| 1037A>G | H346R | 1 | C | + | + | + | No entry | NA |
| 1137C>A | N379K | 1 | C | + | + | + | No entry | NA |
| 1153A>C | S385R | 1 | C | – | + | – | No entry | NA |
| 1219C>T | Q407X* | 1 | C | NA | NA | |||
| 1228C>T | H410Y | 1 | C | (+) | + | – | No entry | NA |
PolyPhen2: benign –, possibly damaging (+), probably damaging +; mutation taster: disease-causing +, benign polymorphism –; conservation: 100% conserved (16/16) +, <100% conserved –; dbSNP (KCNJ12): alignment was performed with KCNJ12 because KCNJ18 data are not available and the identity of the two coding sequences is 98.7%; severity: mild –, severe +; segregation: no segregation –, no available relatives 0.
*Published as potential causative mutations previously.7
NA, not applicable; PP, periodic paralysis.