Table 2.
NUP107 Mutations in Affected Individuals with Early-Onset SRNS
| Mutation | Amino Acid Change | PolyPhen-2 | PyloP | MutationTaster | Grantham | EVS | ExAC | HGVD | In-House Exomesa(n = 575) |
|---|---|---|---|---|---|---|---|---|---|
| c.469G>T | p.Asp157Tyr | 0.712 | 2.84 | 0.998403 | 160 | 0 | 0 | 0 | 0 |
| c.969+1G>A | splice site | NA | NA | NA | NA | 0 | 0 | 0 | 0 |
| c.1079_1083delAAGAG | p.Glu360Glyfs∗6 | NA | NA | NA | NA | 0 | 0.0000083 | 0 | 0.0008696 |
| c.2492A>C | p.Asp831Ala | 1.000 | 1.952 | 0.99995 | 126 | 0 | 0 | 0.0013587 | 0 |
Mutations were annotated according to NUP107 cDNA (GenBank: NM_020401.2). Abbreviations are as follows: EVS, NHLBI Exome Sequencing Project Exome Variant Server; HGVD, Human Genetics Variation Database (the public exome database of the Japanese population).
a
In-house exome database of Japanese control individuals.