Table 2.
list of mutations in ATP1A3 and its interactors in the American cohort annotated with their predicted pathogenicity and their conservative score. Scores in bold are considered as pathogenic.
| Family ID |
Chr | Position | Reference Allele |
Mutant Allele |
Gene symbol |
Detailed annotation of the variant |
Frequency in the 1000 Genome project |
Frequency in the ExAC database |
SIFT | Poly Phen |
LRT | Mutation Taster |
M- CAP |
PhyloP vertebrate |
GERP++ score |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NSB1251 | 19 | 42474441 | G | A | ATP1A3 | exon18:c.C2438T:p.A813V | not reported | not reported | 0 | 0.999 | 0.000 | 1.000 | 0.773 | 9.531 | 3.69 |
| NSB1949 | 9 | 139906315 | G | C | ABCA2 | exon35:c.C5606G:p.A1869G | not reported | 0.00002364 | 0.01 | 0.955 | 0.043 | 0.998 | . | 9.195 | 2.95 |
| NSB1814 | 19 | 35633635 | C | T | FXYD1 | exon7:c.C268T:p.R90C | 0.0014 | 0.007666 | 0 | 1.0 | . | 1.000 | . | 3.554 | 4.12 |
| NSB2720 | 11 | 117693403 | A | G | FXYD6-FXYD2 | exon7:c.T302C:p.V101A | 0.0009 | 0.0004984 | 0 | 0.999 | 0.000 | 0.967 | 0.143 | 4.289 | 4.35 |
| NSB1553 | 11 | 117711076 | C | G | FXYD6 | exon6:c.G217C:p.G73R | 0.0009 | 0.001911 | 0.04 | 0.175 | . | 1.000 | 0.133 | 4.818 | 5.44 |