Table 2.
FUS variants identified in patients with PD
| Position on Chr16 (GRCh37) | Location | rs number | Base change | AA | MAF (%) | MAF in EVS (%) |
|---|---|---|---|---|---|---|
| 31196245 | intron 5 | T>A | 0.07 | |||
| 31196255 | intron 5 | rs73530287 | C>T | 0.07 | 0.01 | |
| 31196411 | exon 6 | rs140003720 | C>T | G225G | 0.07 | 0.05 |
| 31196420 | exon 6 | rs151073460 | C>T | G228G | 0.07 | |
| 31196423 | exon 6 | rs140994262 | T>C | G229G | 0.14 | |
| 31202336 | exon 14 | rs112061837 | C>T | G482G | 0.07 | |
| 31202351 | exon 14 | C>T | R487R | 0.07 | ||
| 31202744 | exon 15 | rs138901914 | G>A | R522R | 0.14 | 0.2 |
AA, amino acid (transcript variant 1, NM_004960); MAF, minor allele frequency; EVS, Exome Variant Server – Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP), Seattle, WA, http://evs.gs.washington.edu/EVS/ (accessed July 2013).