Skip to main content

Table 2 Rare nonsynonymous coding variants identified in NEFH

From: Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects

Group Chr_Position dbSNP cDNA_change AA _change ExAC_EAS gnomAD_exome_EAS CADD No. Carriers (n = 371) No. Controls (n = 711) P value OR (95% CI)
Case only 22:29,876,600 c.349C > T p.Gln117Ter 7.54E-05 Damaging 1 0 0.34 Inf (Na-Inf)
22:29,876,764 c.513G > C p.Gln171His Tolerable 1 0 0.34 Inf (Na-Inf)
22:29,879,421 rs539511579 c.941C > T p.Ala314Val 2.32E-04 1.74E-04 Damaging 1 0 0.34 Inf (Na-Inf)
22:29,885,163 c.1534C > T p.Pro512Ser Damaging 1 0 0.34 Inf (Na-Inf)
Control only 22:29,876,270 c.19G > A p.Ala7Thr Damaging 0 1 1.00 Na
22:29,876,409 rs772280985 c.158C > T p.Thr53Met 0.00 0.00 Damaging 0 1 1.00 Na
22:29,876,520 rs61556467 c.269C > T p.Ala90Val 0.00 0.00 Damaging 0 1 1.00 Na
22:29,876,710 rs763364083 c.469_491del p.Val157ArgfsTer115 0.00 1.29E-04 0 1 1.00 Na
22:29,879,444 rs778265423 c.964C > T p.Arg322Trp 0.00 0.00 Damaging 0 1 1.00 Na
22:29,884,842 rs200464796 c.1213C > A p.Leu405Ile 0.00 0.00 Damaging 0 1 1.00 Na
22:29,885,182 c.1553C > T p.Ser518Leu Damaging 0 1 1.00 Na
22:29,885,198 rs138278265 c.1569G > C p.Glu523Asp 0.00 0.00 Tolerable 0 1 1.00 Na
22:29,885,215 c.1586A > C p.Glu529Ala) Tolerable 0 1 1.00 Na
22:29,885,735 c.2106_2110del p.Lys703ProfsTer2 0 1 1.00 Na
22:29,885,741 c.2112_2232del p.Pro705SerfsTer17 0 1 1.00 Na
22:29,885,917 c.2288C > T p.Ser763Phe Damaging 0 1 1.00 Na
22:29,886,118 rs201757428 c.2489C > T p.Pro830Leu 4.81E-04 2.91E-04 Tolerable 0 2 0.54 Na
22:29,886,426 rs777317391 c.2797C > T p.Pro933Ser 9.53E-04 1.33E-03 Tolerable 0 1 1.00 Na
Both 22:29,876,707 rs774792100 c.456G > C p.Glu152Asp 7.46E-03 4.57E-03 Tolerable 1 1 1.00 1.92 (0.12–30.70)
22:29,881,766 rs201416955 c.1138G > A p.Ala380Thr 5.78E-03 5.33E-03 Damaging 3 8 0.76 0.72 (0.19–2.71)
22:29,885,581 rs267607533 c.1965_1988del p.Glu658_Lys665del 1.16E-04 8.37E-03 2 6 0.72 0.64 (0.13–3.17)
22:29,885,638 rs190692435 c.2009 T > A p.Val670Glu 1.17E-04 1.91E-03 Tolerable 2 5 1.00 0.77 (0.15–3.96)
22:29,885,644 c.2015C > A p.Ala672Glu 1.17E-04 1.60E-03 Tolerable 1 5 0.67 0.38 (0.05–3.28)
22:29,885,990 rs568759161 c.2361C > G p.Ser787Arg 1.39E-03 2.38E-03 Damaging 5 1 0.02 9.64 (1.12–82.67)
22:29,886,382 rs189881592 c.2753A > G p.Glu918Gly 3.34E-03 3.53E-03 Damaging 2 2 0.61 1.92 (0.27–13.65)
  1. cDNA-level nomenclature was based on NM_021076.3. According to hg19/GRCh37, protein-level nomenclature was based on NP_066554.2; dbSNP, accession number of the variant in the Database of Single-Nucleotide Polymorphisms 147; MAF, minor allele frequency; ExAC_EAS and GnomAD_exome_EAS, MAFs of variants in the Exome Aggregation Consortium (ExAC) and GnomAD_exome databases for the East Asian population; In silico prediction by Combined Annotation Dependent Depletion (CADD); AA, amino acid; Ifn, infinity; 95% CI, 95% confidence interval; Na, not available,. A value of P < 0.05 was considered statistically significant (P < 0.0005 after Bonferroni correction)