In silico predictions for missense variants
| Exon | DNA and protein change | PP2 | SIFT | AGVGD | Mutation taster | Frequency in >60 000 people in ExAC | Classification of pathogenicity | Segregation (no families) |
| 2 | c.242C>A, p.Ala81Glu | Possibly damaging (score: 0.951) | Tolerated (score: 0.14) | Class C65 (GV: 0.00 - GD: 106.71) | Disease-causing (p value: 1) | 0 | Class 3–Unknown pathogenicity | Three affected (1) |
| 2 | c.296G>A, p.Gly99Asp | Probably damaging (score: 1.000) | Tolerated (score: 0.16) | Class C65 (GV: 0.00 - GD: 93.77) | Disease-causing (p value: 1) | * | Class 4– Likely pathogenic | 1 (1) |
| 2 | c.296G>T, p.Gly99Asp | Probably damaging (score: 1.000) | Tolerated (score: 0.16) | Class C65 (GV: 0.00 - GD: 93.77) | Disease-causing (p value: 1) | * | Class 4– Likely pathogenic | One de novo (1) |
| 8 | c.1195T>C, pTrp399Arg | Probably damaging (score: 1.000) | Damaging (score: 0) | Class C65 (GV: 0.00 - GD: 101.29) | Disease-causing (p value: 1) | 0 | Class 3– Unknown pathogenicity | 2 (1) |
| 11 | c.1525G>C; p.GIy509Arg | Probably damaging (score: 0.999) | Damaging (score: 0) | Class C65 (GV: 0.00 - GD: 125.13) | Disease-causing (p value: 1) | 0 | Class 3– Unknown pathogenicity | 12 (3) |
| 11 | c.1612G>A, p.Gly538Arg | Probably damaging (score: 1.000) | Damaging (score: 0.04) | Class C65 (GV: 0.00 - GD: 125.13) | Disease-causing (p value: 1) | 0 | Class 3– Unknown pathogenicity | 2 (1) |
| 12 | c.1660A>C, p.Ser554Arg | Possibly damaging (score: 0.817) | Damaging (score: 0) | Class C65 (GV: 0.00 - GD: 109.21) | Disease-causing (p value: 1) | 0 | Class 3– Unknown pathogenicity | 8 (2) |
| 15 | c.2284G>A, p.Gly762Arg | Probably damaging (score: 0.958) | Tolerated (score: 0.34) | Class C65 (GV: 0.00 - GD: 125.13) | Disease-causing (p value: 1) | 0 | Class 4– Likely pathogenic | One de novo (1) |
| 18 | c.2963T>G, p.Val988Gly | Probably damaging (score: 0.996) | Damaging (score: 0.04) | Class C65 (GV: 0.00 - GD: 109.55) | Disease-causing (p value: 1) | 0 | Class 4– Likely pathogenic | 2 (1) First de novo |
| 19 | c.3236G>A, p.Gly1079Glu | Probably damaging (score: 1.000) | Damaging (score: 0) | Class C65 (GV: 0.00 - GD: 141.80) | Disease-causing (p value: 1) | 0 | Class 3– Unknown pathogenicity | 2 (1) |
*Amino acid change seen once but different nucleotide change.
AGVGD, Align-Genome Variant Genetic Database; PP2, PolyPhen 2.