ライフサイエンスコーパス: nonsynonymous

1 que mutations were detected, of which 7 were nonsynonymous.

2 heart failure was caused by a heterozygous, nonsynonymous ACTC1 mutation.

3 Both synonymous and nonsynonymous alleles of MAE genes have elevated average

4 2 candidate genes at 16 T1D loci with common nonsynonymous alleles.

5 s in the major capsid protein (VP2) gene are nonsynonymous, altering amino acid residues that fall wi

6 To evaluate synonymous and nonsynonymous alternatives to essential AGRs further, we

7 ism (SNP) in the coding region resulted in a nonsynonymous amino acid substitution in the CsSGR prote

8 This SNP produces a nonsynonymous amino acid substitution, replacing asparag

9 The two strains had the same nonsynonymous (amino acid-substituting) mutation in the

10 us lineage, and the accumulation of multiple nonsynonymous and indel mutations.

11 imputation can now efficiently genotype rare nonsynonymous and loss of function variants.

12 l of 122 rare (minor allele frequency <0.5%) nonsynonymous and splice-site variants in 2 arrhythmia s

13 We quantified nonsynonymous and synonymous changes in both genes and i

14 Nonsynonymous and synonymous mutations in a PEST-like do

15 were used to estimate the absolute rates of nonsynonymous and synonymous substitutions for different

16 We observe three nonsynonymous and two synonymous mutations.

17 15 affected family members, a heterozygous, nonsynonymous, and fully penetrant mutation (p.

18 5E-56; rs148178887, p = 1.13E-36) were rare, nonsynonymous, and predicted to be damaging or deleterio

19 st, P = 6.2 x 10(-14)), and have a 30% lower nonsynonymous APOBEC3 mutation burden compared to contro

20 ss responses; recent J99 isolates harbored 2 nonsynonymous arsS mutations, and arsS inactivation abol

21 Nonsynonymous CaM variants were over-represented signifi

22 ed a unique clade sharing a single conserved nonsynonymous change in the SH gene.

23 ination in cagY, but we also found indels or nonsynonymous changes in 13 other essential cagPAI genes

24 trast, only two relapse patient isolates had nonsynonymous changes in ATP synthase subunit c (atpE),

25 these genes: extreme polymorphism, excess of nonsynonymous changes in peptide-binding domains, and lo

26 tory mutations to have contributed more than nonsynonymous changes to their adaptation, likely due to

27 pped, and amino acid variants resulting from nonsynonymous changes were analyzed based on the seconda

28 s of liver-specific heteroplasmies involving nonsynonymous changes, most of which are predicted to ha

29 ODA patients identified two additional rare nonsynonymous changes.

30 redicted to disrupt miRNA binding and induce nonsynonymous coding changes in genes previously associa

31 5 x 10(-6)), and a suggestive association of nonsynonymous coding rare variation in the gene PTPRO (P

32 obtain an overview of all transcripts having nonsynonymous coding sequence variants.

33 usceptibility gene, and mouse strains with a nonsynonymous coding single-nucleotide polymorphism (SNP

34 In humans, we identified a nonsynonymous coding variant, single nucleotide polymorp

35 Several nonsynonymous coding variants in MINT2 have been identif

36 in 24 discordant sibling pairs identified 17 nonsynonymous coding variants, of which 1 located in SMA

37 We identified recessive, nonsynonymous coding variations in the INO80 gene in 2 p

38 significantly enriched for genes that harbor nonsynonymous de novo mutations in patients with epilept

39 Next, we examined the distribution of nonsynonymous DEPDC5 variants in the overall cross-secti

40 stitutions, resulting in the predominance of nonsynonymous editing at highly edited sites.

41 this explanation suggests that the prevalent nonsynonymous editing in coleoids is generally nonadapti

42 The nonsynonymous exonic SNPs in SETDB2 and CDH26 which were

43 Rare nonsynonymous exonic variants can now be efficiently gen

44 nced, revealing only seven shared SNPs (four nonsynonymous) for R and Morgan strains compared to Shei

45 Nonsynonymous gene mutations can be beneficial, neutral,

46 A total of 824 somatic nonsynonymous gene variants were identified including in

47 ulted in a selective bottleneck that reduced nonsynonymous genetic diversity in the viral hemagglutin

48 (population minor allele frequency below 1%) nonsynonymous genetic variants in 38 genes were shared b

49 rlap with the discovery cohort in the set of nonsynonymous genetic variants observed in the NKPD1 gen

50 mutated in de novo AML, we identified rare, nonsynonymous germ line variants in 4 genes, each segreg

51 subcohorts of families where probands lacked nonsynonymous germline mutations, especially in genes in

52 Frequency of nonsynonymous germline TP53 alterations.

53 1.66, P = 4.28 x 10(-9)), an Asian-specific, nonsynonymous glycoprotein 2 (GP2) gene variant.

54 the extended pedigree and identified a novel nonsynonymous homozygous mutation in exon 9 of the WIPI2

55 ee substitutions (one synonymous in PB2, one nonsynonymous in M and PA each) were specifically enrich

56 Here we have shown that 3 nonsynonymous ITGAM variants that produce defective CD11

57 We identified 108 nonsynonymous K13 mutations, which showed marked geograp

58 ariant tests, and gene-based burden tests of nonsynonymous/loss-of-function coding variants.

59 Targeted sequencing uncovered nonsynonymous mmpT5 mutations in isolates from all seven

60 we present evidence in mice and humans that nonsynonymous mtDNA mutations can arise and become enric

61 nsense mutations, and PLCG1 with a recurrent nonsynonymous mutation (R707Q) in the highly conserved a

62 d, recombinant Hb mutants demonstrate that a nonsynonymous mutation at a CpG dinucleotide in the beta

63 In two independent cohorts, higher nonsynonymous mutation burden in tumors was associated w

64 eral of these changes were attributable to a nonsynonymous mutation in fur (fur-R88H).

65 ast Saccharomyces cerevisiae We identified a nonsynonymous mutation in the DIG2 gene as a cQTL for th

66 Sequence analysis revealed a nonsynonymous mutation in the E2 glycoprotein (E2 K200R)

67 llows for immune control of cancers with low nonsynonymous mutation loads.

68 detected driver genes by testing whether the nonsynonymous mutation rate was significantly higher tha

69 We investigated one nonsynonymous mutation, Ebola virus (EBOV) glycoprotein

70 nt studies have suggested that the number of nonsynonymous mutations (NsM) can be used to select mela

71 by current agents or a burden of exome-wide nonsynonymous mutations (NsM) that exceed a proposed thr

72 following passage allowed us to identify the nonsynonymous mutations (S460L alone and I212V-S460L in

73 n of mtDNA landscapes, where the surrounding nonsynonymous mutations and variants can enhance or repr

74 om 0.01 to 0.10, indicating that over 90% of nonsynonymous mutations are eliminated by negative selec

75 r approximate the functional consequences of nonsynonymous mutations by using bioinformatic scores.

76 ions, as archaic Denisovans have accumulated nonsynonymous mutations faster than either modern humans

77 pes comprising >96.3% of all possible single nonsynonymous mutations for hydrolysis activity of an am

78 Although hitchhiking around beneficial nonsynonymous mutations has significantly shaped genetic

79 dentified 137 strains that, combined, had 37 nonsynonymous mutations in 36 codons in pbp2x Although t

80 Seventy-six somatic nonsynonymous mutations in 42 genes were observed, and r

81 ), respectively) of newly arising beneficial nonsynonymous mutations in humans, mice, and Drosophila

82 that 10/13 of the wild-type phi6 clones had nonsynonymous mutations in p12, and 2 others had point m

83 We identified 258 genes with rare nonsynonymous mutations in patients with BPD.

84 nd 2872 controls revealed significantly more nonsynonymous mutations in the ASD population, and ident

85 cally significant 3.1-fold enrichment of the nonsynonymous mutations in the Caucasian LOAD cases comp

86 We identified a panel of nonsynonymous mutations in the open reading frame 2 (ORF

87 eterious and beneficial, resembling those of nonsynonymous mutations in the same gene.

88 (XLT), a bleeding disorder, both arise from nonsynonymous mutations in WAS, which encodes a hematopo

89 selection in suppressing the accumulation of nonsynonymous mutations over time.

90 odels exhibited, respectively, 0.02 and 0.07 nonsynonymous mutations per megabase, a dramatically low

91 er the exclusion of synonymous mutations and nonsynonymous mutations previously associated with susce

92 ing each individual or combinations of these nonsynonymous mutations remained sensitive to UV-4B trea

93 ent environmental changes in nature, causing nonsynonymous mutations that are beneficial at one time

94 V-1-infected individuals is typically due to nonsynonymous mutations that change the protein sequence

95 wn resistance-associated mutations and other nonsynonymous mutations that have not been implicated in

96 In Africa, we observed a broad array of rare nonsynonymous mutations that were not associated with de

97 mitochondrial mutations, there were too few nonsynonymous mutations to cause generalized mitochondri

98 Four novel nonsynonymous mutations were found to be significantly a

99 For pfk13, 32 nonsynonymous mutations were identified; however, none w

100 These markers include 7 nonsynonymous mutations, all of which are located within

101 te: an enrichment of positive Tajima's D for nonsynonymous mutations, an excess of polymorphism, and

102 mples from patients with SS did not show any nonsynonymous mutations, but read-depth analysis suggest

103 y reduced genetic diversity and an excess of nonsynonymous mutations, consistent with severe genetic

104 the VGSC led to detection of two additional nonsynonymous mutations, Ile10148Asn and Ser1156Gly.

105 ooking skin biopsies identified five somatic nonsynonymous mutations, independently present in cis wi

106 s identified by tNGS were KDR with different nonsynonymous mutations, MLL2 with different nonsense mu

107 Sequencing of the variant identified seven nonsynonymous mutations, PB1-E51K, PB1-I171V, PA-N350K,

108 s with the number of ubiquitous and regional nonsynonymous mutations, respectively.

109 s from Piccard are significantly enriched in nonsynonymous mutations, suggesting stronger purifying s

110 ches will be ineffective in cancers with few nonsynonymous mutations.

111 re effective in cancers with high numbers of nonsynonymous mutations.

112 identified genes affected by extremely rare nonsynonymous mutations.

113 een tumors and correlates with the number of nonsynonymous mutations.

114 variant of human ZnT8 arising from a single nonsynonymous nucleotide change contributes to increased

115 y conditions typically show a higher rate of nonsynonymous nucleotide changes than the rate of synony

116 ana accessions, AtDDF2 has a higher level of nonsynonymous nucleotide diversity compared with AtDDF1.

117 high similarity to reductase, where a single nonsynonymous nucleotide substitution at GVS1 mediates t

118 In marmosets (Callithrix), a nonsynonymous nucleotide substitution in the OXT gene co

119 -corrected rates of conservative and radical nonsynonymous nucleotide substitutions.

120 iduals exhibited a significant enrichment of nonsynonymous nucleotide variation, an observation consi

121 ailed to find any signatures of selection on nonsynonymous or intergenic mutations.

122 dataset exhibited NER alterations, including nonsynonymous or splice site mutations and homozygous de

123 llelic (homozygous or compound heterozygous) nonsynonymous or splice-site variations in 6 cardiomyopa

124 Rare, deleterious, nonsynonymous, or loss-of-function variants were filtere

125 yses to determine whether a gain-of-function nonsynonymous OXTR SNP interacted with early stress to i

126 superfamily member 2 (TM6SF2) rs58542926 C/T nonsynonymous (p.Glu167Lys) variant in genetic susceptib

127 amed "swingshift" (swst, MGI:3611216) with a nonsynonymous point mutation (N68S) in Fah that caused a

128 he SLC10A1 gene revealed a single homozygous nonsynonymous point mutation in the coding sequence of t

129 The only common nonsynonymous polymorphism observed, rs2228479, is not s

130 ociated idiosyncratic DILI with rs2476601, a nonsynonymous polymorphism that encodes a substitution o

131 The top ranked nonsynonymous polymorphism was rs17885382 in HLA-DRB1 (P

132 Nonsynonymous polymorphisms in fd (ferredoxin), arps10 (

133 Nonsynonymous polymorphisms in three essential lipopolys

134 s, we identified 49 previously unidentified, nonsynonymous PPARG variants (MAF < 0.5%).

135 Damaging, nonsynonymous PZMs within critical exons of prenatally e

136 Three nonsynonymous recurrent single nucleotide variants contr

137 of the efficiency of natural selection, the nonsynonymous relative to the synonymous nucleotide site

138 In both SCZ and ASD datasets, rare nonsynonymous risk variants cluster significantly in aff

139 onstrated the effects of several cross-tumor nonsynonymous RNA editing events on cell viability and p

140 significant enrichment of trans-acting rare nonsynonymous secondary variants in patients with BBS co

141 jor (D398) or the minor (N398) allele of the nonsynonymous single nucleotide polymorphism (SNP), rs16

142 Here we report that a nonsynonymous single nucleotide polymorphism in SLC29A1

143 t, we investigated the consequences of three nonsynonymous single nucleotide polymorphisms (SNPs) for

144 By screening reported data sets, 12 rare nonsynonymous single nucleotide polymorphisms (SNPs) wer

145 n has relevance for the increasing number of nonsynonymous single nucleotide polymorphisms now being

146 n chimpanzees and orangutans and found three nonsynonymous single nucleotide polymorphisms, one in ch

147 with focus on loss-of-function variants and nonsynonymous single nucleotide polymorphisms.

148 A rare nonsynonymous single nucleotide variant (SNV) within the

149 ination of the CYP2D6 region revealed that a nonsynonymous single nucleotide variant rs16947 is stron

150 A 2% to 5% background rate of rare SCN5A nonsynonymous single nucleotide variants (nsSNVs) among

151 Nonsynonymous single nucleotide variants (nsSNVs) consti

152 h, termed snvForest, to prioritize candidate nonsynonymous single nucleotide variants for a specific

153 total of 13 (12/13 novel) gene fusions, 231 nonsynonymous single nucleotide variants, and 21 inserti

154 We found that a prevalent nonsynonymous single-nucleotide polymorphism (C/T, rs203

155 A nonsynonymous single-nucleotide polymorphism at codon 47

156 Nonsynonymous single-nucleotide polymorphisms (ns-SNPs)

157 gene gain or loss, the role of pathoadaptive nonsynonymous single-nucleotide polymorphisms (nsSNPs) h

158 ain reaction-based genotyping, we identified nonsynonymous single-nucleotide polymorphisms (SNPs) in

159 nd 328 healthy controls were genotyped for 9 nonsynonymous single-nucleotide polymorphisms (SNPs) in

160 We analyzed 14 nonsynonymous single-nucleotide polymorphisms in RIG-I-l

161 nd 328 healthy controls were genotyped for 4 nonsynonymous single-nucleotide polymorphisms in TLR10,

162 We report on a nonsynonymous single-nucleotide variant in serpin family

163 We also demonstrate that nonsynonymous single-nucleotide variants (nsSNVs) of the

164 We use exome sequencing to analyse nonsynonymous single-nucleotide variants (SNVs) across t

165 evolved at recurrence, with less than 8% of nonsynonymous single-nucleotide variants being shared in

166 -Finnish) Europeans have significantly fewer nonsynonymous singletons in Online Mendelian Inheritance

167 to estimate unfolded SFSs for synonymous and nonsynonymous sites in a population of Drosophila melano

168 raints, which is expected to be the case for nonsynonymous sites in protein-coding genes.

169 nd cuttlefishes), with a greater fraction of nonsynonymous sites than synonymous sites subject to hig

170 ate between that operating on synonymous and nonsynonymous sites.

171 Finally, we identified 1 nonsynonymous SNP (rs1046934) that was independently ass

172 The strongest association was observed for a nonsynonymous SNP in the PLG gene (R523W).

173 C_Os07g11020 and LOC_Os07g11520 indexed by a nonsynonymous SNP mutation on exon 5 of a bHLH transcrip

174 The top replicated nonsynonymous SNP, rs34144324, was in a glutamate recept

175 ting is used to model putatively deleterious nonsynonymous SNPs (nsSNPs) in the mouse orthologs of fe

176 yze the effect of amino acid variants (e.g., nonsynonymous SNPs (nsSNPs)) for a user's protein sequen

177 There was an excess of nonsynonymous SNPs after the diversification of M. tuber

178 of the DNA polymorphisms revealed that 2347 nonsynonymous SNPs and 51 frameshift mutations could dif

179 Additionally, nonsynonymous SNPs in ATXN3 cause amino acid changes in

180 chanistic explanation for the observation of nonsynonymous SNPs in fnbA among clinical isolates of S.

181 ovascular infections caused by S. aureus and nonsynonymous SNPs in FnBPA.

182 ization identified phenotypically meaningful nonsynonymous SNPs in the ICP4, UL41 (VHS), UL42, UL46 (

183 ression was used to identify MPWL-associated nonsynonymous SNPs in the UL1 (gL), UL2, UL4, UL49 (VP22

184 ons may not contribute to fecundity, whereas nonsynonymous SNPs likely play a predominant role.

185 Chromosome one SNPs included two ERICH3 nonsynonymous SNPs that resulted in accelerated proteaso

186 Nonsynonymous SNPs were detected across all gene categor

187 Most of these mutations are nonsynonymous SNPs, but polymorphisms in more than one c

188 ing lower fitness levels included 123 unique nonsynonymous SNPs, including three located in genes (ly

189 using 1000 Genomes Project data identified 7 nonsynonymous SNPs, which are in moderate to high linkag

190 that result from expressed serovar specific nonsynonymous SNPs.

191 ntify a novel association of a low-frequency nonsynonymous SNV in GLP1R (A316T; rs10305492; MAF=1.4%)

192 We estimate that the fraction of deleterious nonsynonymous SNVs is higher than previously reported; q

193 re, we show that the fraction of deleterious nonsynonymous SNVs is significantly higher for Mendelian

194 tructure and interaction data to interrogate nonsynonymous somatic cancer mutations, identifying a se

195 cognize mutational antigens corresponding to nonsynonymous somatic mutations (NSSMs), and in some cas

196 ) methodology by inspecting over 2.5 million nonsynonymous somatic mutations derived from 6,789 tumor

197 ncer-associated gene, defined as two or more nonsynonymous somatic mutations in the same gene and tum

198 The tumor genomes harboring the nonsynonymous somatic mutations in these genes had a hig

199 We defined nonsynonymous somatic mutations occurring in both premal

200 s, P = 4.0 x 10(-4)), increased frequency of nonsynonymous SSNVs in Pan-Cancer genes (mean 1.4 vs. 0.

201 GBF1) also demonstrated an increase in rare nonsynonymous, stop, and/or splice mutations in cases co

202 entified 69 genes with predicted deleterious nonsynonymous, stop, or splice variants that segregated

203 lele frequency <1%) potentially deleterious (nonsynonymous, stop-gain, splice) variants (n = 2,398 fo

204 utative tail fiber proteins are enriched for nonsynonymous strain variation compared to other genes,

205 pping of one these mutants revealed an R240C nonsynonymous substitution in the activation loop of a r

206 Analyses of synonymous and nonsynonymous substitution rates of these conserved pept

207 the rate for the wild type due to increased nonsynonymous substitution rates.

208 , we measured the per-genome accumulation of nonsynonymous substitutions across diverse pairs of popu

209 the local density of coding sites as well as nonsynonymous substitutions and positively correlated wi

210 urthermore, we have discovered that in CBSV, nonsynonymous substitutions are more predominant than sy

211 ious burden in sorghum, showing that ~33% of nonsynonymous substitutions are putatively deleterious.

212 population and estimate that at least 20% of nonsynonymous substitutions between humans and an outgro

213 found a transmembrane-skewed distribution of nonsynonymous substitutions between the two species, thr

214 nthetic metabolism have lower synonymous and nonsynonymous substitutions rates than those involved in

215 Moreover, nonsynonymous substitutions were identified across the e

216 We detected strong correlations of dN (nonsynonymous substitutions) but not dS (synonymous subs

217 ineage contained a relatively high number of nonsynonymous substitutions, and viruses in this lineage

218 tivity permits some otherwise harmful G-to-A nonsynonymous substitutions, because the As are edited t

219 nning the length of this gene, including two nonsynonymous substitutions.

220 s, and are categorized by polymorphism type: nonsynonymous, synonymous, or ambiguous.

221 We found numerous differences in diversity, nonsynonymous/synonymous substitution rates, and recombi

222 erved that amino acids in Parkin targeted by nonsynonymous T1R-risk mutations were also enriched for

223 Of the 12 nucleotide differences, six were nonsynonymous; these were engineered into a new molecula

224 dentified within each virus and the ratio of nonsynonymous to synonymous (dN/dS) substitutions of min

225 Genome-wide estimates of the ratio of nonsynonymous to synonymous evolutionary changes (dN/dS

226 e selection pressures (measured as ratios of nonsynonymous to synonymous evolutionary changes [dN/dS

227 elihood convergence and/or elevated ratio of nonsynonymous to synonymous nucleotide substitution rate

228 We observed a lower nonsynonymous to synonymous rate ratio in antagonistic c

229 eotide polymorphisms (SNPs) and the ratio of nonsynonymous to synonymous SNPs compared to findings in

230 M. tuberculosis within Nunavik: The ratio of nonsynonymous to synonymous substitution rates (dN/dS) w

231 ein sequence level, measured as the ratio of nonsynonymous to synonymous substitution rates, and micr

232 The ratio of nonsynonymous to synonymous substitutions was higher amo

233 between the two species show lower ratios of nonsynonymous to synonymous substitutions.

234 ribution of fitness effects and the ratio of nonsynonymous to synonymous variants suggest that purify

235 Here, we studied the ratios of nonsynonymous-to-synonymous substitution rates (d (N)/d

236 of population differentiation, and a higher nonsynonymous-to-synonymous substitution ratio than the

237 These include a nonsynonymous trans-species polymorphism and a recent mu

238 e-exome sequencing identified a heterozygous nonsynonymous variant (c.2324C > T) in the Toll-like rec

239 We identified a nonsynonymous variant (rs2229774, p.Ser427Leu) in RARG h

240 e sequencing we now identified a single rare nonsynonymous variant (SNV) rs142946965 [p.R215I] in ADA

241 ino acid position 492 (p.C492Y), as the only nonsynonymous variant cosegregating with vibratory urtic

242 t common of these mutations is the identical nonsynonymous variant encoding p.Leu412Phe.

243 Association of rs61754411, a rare nonsynonymous variant in PTPRO, with emphysema and obstr

244 1 is in high linkage disequilibrium with the nonsynonymous variant in SCN10A, rs6795970 (V1073A, r(2)

245 ecting STARD9, while another carried a novel nonsynonymous variant in SEMA6D together with a rare sto

246 caused by recurrent somatic mosaicism for a nonsynonymous variant in SMO (c.1234C>T [p.Leu412Phe]),

247 ted with multiple phenotypes; for example, a nonsynonymous variant in the zinc transporter SLC39A8 in

248 The presence of a nonsynonymous variant of N-acetyltransferase 2 (NAT2) [r

249 The common nonsynonymous variant rs16969968 in the alpha5 nicotinic

250 Functional assessment of nonsynonymous variant supported the presence of purifyin

251 cases had a pathogenic or likely pathogenic nonsynonymous variant with 3 (50%) being de novo.

252 Resequencing of SLCO2A1 revealed a nonsynonymous variant, rs34550074 (p.A396T), and associa

253 ple height-increasing rare and low-frequency nonsynonymous variants (SLC27A3 and CYP26B1; P(SKAT-O) <

254 sequencing with 180 x coverage identified 24 nonsynonymous variants and 2 frameshift deletions in CHR

255 e observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disea

256 We identified 27 nonsynonymous variants associated with QT interval (FDR

257 e also observed a significant excess of rare nonsynonymous variants exclusive to EA smokers in NRXN1,

258 A model qualifying ultrarare, deleterious, nonsynonymous variants implicated TERT and RTEL1, and a

259 .1% in public and in-house control datasets) nonsynonymous variants in 25 genes.

260 rmine the inheritance patterns of ultrarare, nonsynonymous variants in 99 sudden death-susceptibility

261 Particularly, we found four pLOF or nonsynonymous variants in APOB, APOE, PCSK9, and TM6SF2

262 our genetically elusive LQTS cohort harbored nonsynonymous variants in CaM.

263 s and controls identifies six eBL-associated nonsynonymous variants in EBNA1, EBNA2, BcLF1, and BARF1

264 s that contained a significant enrichment of nonsynonymous variants in genomes of healthy individuals

265 Our results suggest that rare nonsynonymous variants in low- or intermediate-risk CMM

266 at extremes of lipid traits, we identified 2 nonsynonymous variants in low-density lipoprotein recept

267 23.1-q23.2, distal 16p11.2, and 17p13.3, and nonsynonymous variants in NSD1 and GABRA5).

268 as well as rare loss-of-function and de novo nonsynonymous variants in schizophrenia cases.

269 This highlighted heterozygous de novo nonsynonymous variants in SPTBN2 as causative in three D

270 Nonsynonymous variants in the gene explained 0.9% of sex

271 enome-wide association study identifying six nonsynonymous variants in the genes EBNA1, EBNA2, BcLF1,

272 chain (IGH) locus centring on a haplotype of nonsynonymous variants in the IGHV4-61 gene segment corr

273 this review we analyze the pathogenicity of nonsynonymous variants in the newly discovered gene enco

274 We used pLOF and nonsynonymous variants in the SWAI population to evaluat

275 We observed four heterozygous, nonsynonymous variants in transient receptor potential m

276 We observed four heterozygous, nonsynonymous variants in TRPM7, a ubiquitously expresse

277 Accurate deleteriousness prediction for nonsynonymous variants is crucial for distinguishing pat

278 frequency filtering approaches identified 55 nonsynonymous variants strongly associated with resistan

279 associations were mainly driven by pLOF and nonsynonymous variants that are unique or highly enriche

280 e many predicted loss-of-function (pLOF) and nonsynonymous variants that were highly enriched or priv

281 For the LRRK2 gene an enrichment of nonsynonymous variants was observed in T1R-free controls

282 Genewise enrichment of nonsynonymous variants was tested with both kernel-based

283 Nonsynonymous variants were adjudicated using the Americ

284 ing solely at coding variants, a total of 28 nonsynonymous variants were identified and replicated in

285 Two nonsynonymous variants would not have been elevated to l

286 g Pathogenicity, and mode of Inheritance for Nonsynonymous variants), a prediction method which utili

287 ng variants (splicing, stop-gain, stop-loss, nonsynonymous variants, or indels) in CLCN6 were associa

288 positive prediction rate for benign yet rare nonsynonymous variants, which demonstrated the value of

289 effect were located in genes, including five nonsynonymous variants.

290 tissue with 1.8 mutations per sample and two nonsynonymous variants.

291 rformed a gene-based association analysis of nonsynonymous variation captured using exome-sequencing

292 Our study suggests that nonsynonymous variation in the gene NKPD1 affects depres

293 Despite modestly higher levels of nonsynonymous variation in the macaques, the estimated d

294 s connecting mechanistic characterization of nonsynonymous variation to phenotype.

295 here major association signals correspond to nonsynonymous variation, we summarize studies defining t

296 Furthermore, HN1 to HN18 had some nonsynonymous variations in EBV genes including genes en

297 9-3T>G) in 2 unrelated patients as well as 3 nonsynonymous variations in this gene (p.G257R, p.R323Q,

298 ach locus were tested for commonly occurring nonsynonymous variations.

299 A skewed ratio (4.83) of nonsynonymous versus synonymous (dN/dS) mtDNA mutations

300 III half-life, and the rare or low-frequency nonsynonymous VWF variants p.(Arg826Lys) and p.(Arg852Gl