Table 2 Rare variants in NUP50 identified in ALS and controls
From: Integrative genetic analysis illuminates ALS heritability and identifies risk genes
variant_type | variant_location | cDNA_change | protein_change | gnomAD_AF | ALS cases (n = 9390) | Control (n = 4594) | MVP | CADD | dbSNPid |
|---|---|---|---|---|---|---|---|---|---|
missense_variant | 22:g.45564104G>A | c.46G>A | p.Asp16Asn | 0.000322851 | 11 | 2 | 0.87 | 26.5 | rs200329756 |
frameshift_variant | 22:g.45564091dupATAGGAATTG | c.35_45dupATAGGAATTGG | p.Asp16fs | NA | 1 | 0 | NA | NA | NA |
structural | 22:g.45564117A>G | c.59A>G | p.Glu20Gly | 4.2e-06 | 3 | 0 | 0.84 | 26.3 | rs1200142847 |
structural | 22:g.45567544C>T | c.133C>T | p.Arg45Cys | 9.68367e-05 | 9 | 0 | 0.89 | 28.1 | rs113634721 |
missense_variant | 22:g.45571835C>T | c.214C>T | p.Arg72Cys | 3.23018e-05 | 1 | 0 | 0.81 | 23.6 | rs781273344 |
splice_variant | 22:g.45574119G>A | c.341G>A | p.Gly114Asp | 0.000419897 | 3 | 0 | 0.73 | 24.2 | rs148003438 |
missense_variant | 22:g.45574245A>G | c.467A>G | p.Tyr156Cys | 2.88367e-05 | 1 | 0 | 0.75 | 23 | rs779406443 |
missense_variant | 22:g.45574601A>G | c.823A>G | p.Lys275Glu | 3.22768e-05 | 2 | 0 | 0.71 | 23.5 | rs753113949 |
splice_acceptor | 22:g.45567480G>C | c.70-1G>C | NA | 3.9-06 | 1 | 0 | NA | 32 | rs770658454 |
missense_variant | 22:g.45574313C>G | c.535C>G | p.Pro179Ala | 6.52768e-06 | 1 | 0 | 0.81 | 22.4 | rs763689432 |
missense_variant | 22:g.45580471C>T | c.1342C>T | p.Arg448Trp | 6.52768e-05 | 1 | 0 | 0.91 | 24 | rs777952476 |
