ライフサイエンスコーパス: nonsynonymous

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

2 rare; MAF<0.05), 31 of which (27 rare) were nonsynonymous.

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 a higher proportion of amino acid-changing (nonsynonymous) alleles inferred to alter protein structu

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

7 opulations, allelic crosses, and modeling of nonsynonymous amino acid exchanges in protein crystal st

8 y have promoted the observed accumulation of nonsynonymous amino acid substitutions.

9 Subjects were genotyped for 6 common, nonsynonymous and functional variants in ABCG5/8, and a

10 ving significantly faster than autosomes for nonsynonymous and most noncoding DNA sites and significa

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

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

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

14 We observe three nonsynonymous and two synonymous mutations.

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

16 Nonsynonymous CaM variants were over-represented signifi

17 fied a haplotype (termed G3) that contains a nonsynonymous change at the membrane-addressing-domain-e

18 gly, 80% of patients also carried at least 1 nonsynonymous change in ADAMTS13, and in 38% of patients

19 er analyses explored the effects of sampling nonsynonymous change only versus partitioned and unparti

20 support only when analysis is restricted to nonsynonymous change, while total change is necessary fo

21 hese SNPs represent both regulatory SNPs and nonsynonymous changes defining well-studied disease alle

22 factors and bone morphogenetic proteins, has nonsynonymous changes found exclusively in common marmos

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

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

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

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

27 ODA patients identified two additional rare nonsynonymous changes.

28 5 x 10(-6)), and a suggestive association of nonsynonymous coding rare variation in the gene PTPRO (P

29 Recent studies have focused attention on two nonsynonymous coding region substitutions, D4E and C127S

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

31 a 9.8-Mb critical interval, we identified a nonsynonymous coding single nucleotide polymorphism in t

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

33 ted with fasting glucose levels, including a nonsynonymous coding variant within Tpcn2.

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

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

36 other SpeB(A-) variants from a mouse all had nonsynonymous covRS mutations that resulted in the SpeB(

37 Furthermore, synonymous (d(S)) and nonsynonymous (d(N)) nucleotide substitution rates are b

38 RRV T48 carrying the six nonsynonymous DC5692 nucleotide differences (RRV-T48-nsP

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

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

41 Codon-based analyses of rates of nonsynonymous (dN) and synonymous (dS) substitutions in

42 Maximum likelihood estimations of nonsynonymous (dN) to synonymous (dS) substitution (dN/d

43 The nonsynonymous exonic SNPs in SETDB2 and CDH26 which were

44 Rare nonsynonymous exonic variants can now be efficiently gen

45 We identified and tested 111,592 nonsynonymous exonic variants for association with behav

46 e we demonstrate the association of a common nonsynonymous FHOD3 genetic variant with HCM.

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

48 ified the most likely causative variant as a nonsynonymous G>A transition (rs80356779; c.1436C>T [p.P

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

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

51 intrauterine fetal deaths hosted SCN5A rare nonsynonymous genetic variants (p.T220I, p.R1193Q, invol

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

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

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

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

56 Frequency of nonsynonymous germline TP53 alterations.

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

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

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

60 After filtering, 1 nonsynonymous mutation (p.I31F) in the ribosomal protein

61 ond DBA family was found to have a different nonsynonymous mutation (p.I50T) in RPS29.

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

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

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

65 We identified a homozygous nonsynonymous mutation in CERS1, the gene encoding ceram

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

67 d with the hetero- to homoplasmic shift of a nonsynonymous mutation in MT-ND2, encoding the mitochond

68 Nearly all samples had at least 1 nonsynonymous mutation in one of nine categories of gene

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

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

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

72 ed a single causative locus and identified a nonsynonymous mutation of serine to phenylalanine (S968F

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

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

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

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

77 Nonsynonymous mutations altered amino acids with nonpola

78 VSV-rp30 sequencing revealed 2 nonsynonymous mutations at codon positions P126 and L223

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

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

81 Although hitchhiking around beneficial nonsynonymous mutations has significantly shaped genetic

82 Targeted sequencing revealed 11 nonsynonymous mutations in 16 IM samples and 2 mutations

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

84 transmissible variants possessed one of two nonsynonymous mutations in M1, either alone or in combin

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

86 ve pattern of systematic counterselection of nonsynonymous mutations in prophage genes.

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

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

89 ce to echinocandins is known to be caused by nonsynonymous mutations in the hot spot-1 (HS1) regions

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

91 A high frequency (>85%) of nonsynonymous mutations in the para gene was found in po

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

93 quencing identified 20 newly acquired, novel nonsynonymous mutations not present at initial diagnosis

94 Paradoxically, however, nonsynonymous mutations of mitochondrial DNA (mtDNA) are

95 eins and glycoproteins were found to contain nonsynonymous mutations of potential biological signific

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

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

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

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

100 correlated significantly with the number of nonsynonymous mutations that had been acquired.

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

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

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

104 Nonsynonymous mutations were detected in 18% (18/102) of

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

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

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

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

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

110 identified genes affected by extremely rare nonsynonymous mutations.

111 l candidate genes containing high-frequency, nonsynonymous mutations.

112 entified several genes that harbor recurrent nonsynonymous mutations.

113 more likely to be removed by selection than nonsynonymous mutations.

114 ce leading to the asymmetric accumulation of nonsynonymous mutations.

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

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

117 being primarily in the amino-acid-changing (nonsynonymous) mutations.

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

119 inants of RRV virulence, and we identify two nonsynonymous nucleotide changes as sufficient for the a

120 Here we find that the six nsP1 nonsynonymous nucleotide differences between strains T48

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

122 Synonymous and nonsynonymous nucleotide substitution rates were greates

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

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

125 neoidea is strongly supported by analysis of nonsynonymous-only signal; conflicting, strong support f

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

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

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

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

130 irected admixture and by indirectly favoring nonsynonymous over synonymous substitutions.

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

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

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

134 ients and discovered previously unidentified nonsynonymous point mutations in three genes encoding pr

135 We observed unusually high levels of nonsynonymous polymorphism in the regions encoding the f

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

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

138 Given the existence of N-terminal nonsynonymous polymorphisms (R6G;E42G) within the HTR2B

139 the site-frequency spectra of synonymous and nonsynonymous polymorphisms are virtually indistinguisha

140 Nonsynonymous polymorphisms in fd (ferredoxin), arps10 (

141 erial evolution is known to proceed via few, nonsynonymous, positively selected mutations, and here w

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

143 Damaging, nonsynonymous PZMs within critical exons of prenatally e

144 terogeneity and cause underestimation of the nonsynonymous rate and omega, with the bias being much s

145 Three nonsynonymous recurrent single nucleotide variants contr

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

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

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

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

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

151 One such variant, rs13266634, a nonsynonymous single nucleotide polymorphism in the solu

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

153 We analyzed nonsynonymous single nucleotide polymorphisms (SNPs) fro

154 1Arg variant of ADAMTS10, as well as 7 other nonsynonymous single nucleotide polymorphisms (SNPs) in

155 bit minimal allelic diversity as a result of nonsynonymous single nucleotide polymorphisms (SNPs).

156 mbinant CYB5B variants corresponding to four nonsynonymous single nucleotide polymorphisms (SNPs).

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

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

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

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

161 Nonsynonymous single nucleotide variants (nsSNVs) consti

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

163 A nonsynonymous single-nucleotide polymorphism at codon 47

164 Nonsynonymous single-nucleotide polymorphisms (ns-SNPs)

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

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

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

168 Direct association studies between nonsynonymous single-nucleotide polymorphisms and Plasmo

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

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

171 High-throughput sequencing identified 347 nonsynonymous single-nucleotide polymorphisms within the

172 We identified a nonsynonymous single-nucleotide variant (c.548G-->A, p.A

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

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

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

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

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

178 ate between that operating on synonymous and nonsynonymous sites.

179 Recently, we identified a rare, nonsynonymous Slc6a3 variant that produces the DAT subst

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

181 We identified a nonsynonymous SNP in NUDT15 (encoding p.Arg139Cys) that

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

183 ce to synthetic pyrethroids over time, and a nonsynonymous SNP in the RmbetaAOR, a gene that we propo

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

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

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

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

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

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

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

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

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

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

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

195 Nonsynonymous SNPs were detected across all gene categor

196 None of the nonsynonymous SNPs were found associated with primary gl

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

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

199 that result from expressed serovar specific nonsynonymous SNPs.

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

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

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

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

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

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

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

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

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

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

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

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

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

213 This model estimates the number of nonsynonymous substitutions (dN) and synonymous substitu

214 s in hominoids do not have elevated rates of nonsynonymous substitutions (Ka) compared with a control

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

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

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

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

219 loci, on the whole, have significantly more nonsynonymous substitutions than the progenitor loci.

220 Callitrichine-specific nonsynonymous substitutions were identified in GDF9, BMP

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

222 These mutations included 7 nonsynonymous substitutions, 4 insertions, and 1 deletio

223 s that differ from the reference by multiple nonsynonymous substitutions.

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

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

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

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

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

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

230 %) of protein-coding genes with the ratio of nonsynonymous to synonymous polymorphism greater than on

231 egative correlation between estimates of the nonsynonymous to synonymous rate ratio (omega = dN/dS) a

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

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

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

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

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

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

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

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

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

241 Next, we tested FHOD3-V1151I (rs2303510), a nonsynonymous variant in partial linkage disequilibrium

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

243 1 is in high linkage disequilibrium with the nonsynonymous variant in SCN10A, rs6795970 (V1073A, r(2)

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

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

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

247 e experimentally characterized one candidate nonsynonymous variant in Toll-like receptor 5 (TLR5) and

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 igh-linkage disequilibrium (r(2)>0.9) with a nonsynonymous variant, rs2228145, were also associated w

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

254 In the current study of Behcet disease (BD), nonsynonymous variants (NSVs) identified by deep exonic

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

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

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

258 s high levels of genetic diversity with >100 nonsynonymous variants being detected.

259 Subsequent assessment of all nonsynonymous variants by in vivo complementation reveal

260 c architecture of type 2 diabetes where rare nonsynonymous variants clustered in a modest number of g

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

262 We observed an accumulation of rare nonsynonymous variants exclusive to RA cases in IL2RA an

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

264 .1% in public and in-house control datasets) nonsynonymous variants in 25 genes.

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

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

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

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

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

270 Nonsynonymous variants in the gene explained 0.9% of sex

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

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

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

274 All nonsynonymous variants jointly accounted for 35% of the

275 Rare nonsynonymous variants may be important in etiology of i

276 We also evaluated the aggregate effects of nonsynonymous variants on these phenotypes using Genome-

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

278 Nonsynonymous variants were adjudicated using the Americ

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

280 In combination, 22 nonsynonymous variants were identified and represent key

281 Two nonsynonymous variants would not have been elevated to l

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

283 iltering, we identified 84 reported or novel nonsynonymous variants, 22 of which have been previously

284 ental follow-up; it includes 35 high-scoring nonsynonymous variants, 59 variants associated with expr

285 More than 10,000 genes carry nonsynonymous variants, and 646 genes have been lost.

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

287 istent and mostly limited to evaluation of 2 nonsynonymous variants, T280M (rs3732378) and V249I (rs3

288 requency (MAF) 0.5-5%) and rare (MAF < 0.5%) nonsynonymous variants, we analyzed exome array data in

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

290 quence variants were identified, including 3 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 here major association signals correspond to nonsynonymous variation, we summarize studies defining t

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

296 9-3T>G) in 2 unrelated patients as well as 3 nonsynonymous variations in this gene (p.G257R, p.R323Q,

297 ach locus were tested for commonly occurring nonsynonymous variations.

298 Of 30 nonsynonymous VWF variants, 6 were significantly and ind

299 ants (frameshift, essential splice-site, and nonsynonymous) were found exclusively in either >/=3 sub

300 including 8 newly found in this study and 13 nonsynonymous, were identified.