ライフサイエンスコーパス: non-synonymous

1 One non-synonymous AC9 polymorphism has been identified, whi

2 26/28 gut model and patient SNVs were non-synonymous, affecting a range of gene targets.

3 The 17 non-synonymous allelic differences occurred in the CFA/I

4 e that a single-nucleotide polymorphism, the non-synonymous alpha5 variant rs16969968, frequent in ma

5 were identified; these mutations resulted in non-synonymous amino acid changes or affected splicing s

6 KT/protein kinase B molecules), leading to a non-synonymous amino acid substitution in the highly con

7 resource for genome-wide annotation of human non-synonymous (amino acid changing) SNPs.

8 We used computed patterns of non-synonymous (amino acid-altering) nucleotide diversit

9 Within each fimbrial type, there were 17 non-synonymous and 1 synonymous point mutations among al

10 SNP-1 is non-synonymous and involves an amino acid change from Le

11 us substitutions between species compared to non-synonymous and synonymous polymorphisms within speci

12 s and overlapping codes are delineated along non-synonymous and synonymous positions in protein codin

13 s by calculating the nucleotide diversity at non-synonymous and synonymous sites in the coding region

14 selection based on the relative frequency of non-synonymous and synonymous substitutions between spec

15 us rate ratio but to an increase in both the non-synonymous as well as the synonymous substitution ra

16 BI's) Exome Sequencing Project revealed that non-synonymous ASB10 mutations are present in the genera

17 A strong correlation between non-synonymous, benign variability and non-synonymous hu

18 and whole-exome sequencing, we identified a non-synonymous c.2263G>C (p.G755R) mutation at the PLB1

19 umour models that a considerable fraction of non-synonymous cancer mutations is immunogenic and that,

20 ied de novo mutations show a large excess of non-synonymous changes in schizophrenia cases, as well a

21 is defined by multiple mutations, including non-synonymous changes in the virion protein 35 (VP35),

22 40 HIVAN or FSGS cases and controls revealed non-synonymous changes that could account for the diseas

23 In addition, two non-synonymous changes were detected: G168S change in ex

24 Non-synonymous coding mutations in a gene change the res

25 tation, one splicing site mutation and seven non-synonymous coding mutations were identified.

26 We examined common promoter and non-synonymous coding polymorphisms in relation to age o

27 Two non-synonymous coding polymorphisms within C3, R102G and

28 collection of SNPs, including 7391 distinct non-synonymous coding region SNPs in 2683 genes.

29 -coding, 6 were synonymous coding and 2 were non-synonymous coding sequence changes.

30 A total of 11 non-synonymous coding sequence mutations were detected i

31 A non-synonymous coding sequence variant (c.2 T > C; p.1Me

32 Non-synonymous coding sequence variations in the ankyrin

33 orphism analyses and to prioritize candidate non-synonymous coding SNPs (nsSNPs) that should be teste

34 a change in the encoded amino acid sequence (non-synonymous coding SNPs or 'nsSNPs').

35 s we also identified the previously reported non-synonymous coding variants (E921D and E993V) which a

36 We then examined the effect of the non-synonymous coding variants identified on their cell

37 In a complementary analysis, we identify 26 non-synonymous, coding, single nucleotide polymorphisms

38 However, the frequency of synonymous and non-synonymous codon pair repeats varies in a correlated

39 s computation and analysis of synonymous and non-synonymous codon substitutions for studying evolutio

40 Volatility for a given codon is the ratio of non-synonymous codons to all sense codons accessible by

41 we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting

42 tly correlated with the risk of spontaneous, non-synonymous conversion of methylated cytosines to thy

43 For the non-synonymous cSNPs identified by resequencing, both th

44 One hundred and eleven (35%) of the 319 non-synonymous cSNPs that were identified by either rese

45 nucleotide polymorphisms (SNPs), including 3 non-synonymous cSNPs, as well as a variable number of ta

46 ns associated with artemisinin resistance--a non-synonymous Cys580Tyr substitution in 70 (65%) of 107

47 uding similar rates of synonymous (d(S)) and non-synonymous (d(N)) nucleotide changes among rare poly

48 s (M30), which is significantly enriched for non-synonymous de novo mutations ascertained from patien

49 For non-synonymous disease-causing mutation, 40.8% are descr

50 tion and a BACE2 intronic deletion) and 3/12 non-synonymous DNVs (in PSEN1, VPS35 and MARK4) targeted

51 in the 12 remaining trios and identified 12 non-synonymous DNVs in six patients.

52 the functional impact of the following three non-synonymous DNVs targeting this network: the novel PS

53 nificantly increased coronary disease in the non-synonymous dysfunctional variant cohort.

54 ting sites in coding sequence, including two non-synonymous edits in the Cacna1d gene that fell into

55 NECTAR (Non-synonymous Enriched Coding muTation ARchive) is a da

56 ociations between incident CHD risk and both non-synonymous EPHX2 polymorphisms and phase-reconstruct

57 Eighteen rare non-synonymous GCKR variants identified in these 791 ind

58 To date, four non-synonymous genetic variants have been identified, tw

59 R-PSEP is a new software tool for predicting non-synonymous genetic variants that may play a causal r

60 proach will often identify a great number of non-synonymous genetic variants.

61 tant to understand as numerous mutations and non-synonymous genetic variation in ZnT2 have been detec

62 tween non-synonymous, benign variability and non-synonymous human-mouse divergence suggests that sele

63 A non-synonymous IGFBP3 SNP in exon 1, rs2854746 (Gly32Ala

64 Here, we found that the non-synonymous IRAK2 variant rs708035 (coding D431E) inc

65 We here identified a non-synonymous IRAK2 variant, rs35060588 (coding R214G),

66 ing effect of rs1143679, a single nucleotide non-synonymous Mac-1 polymorphism associated with SLE.

67 For example, many non-synonymous missense SNPs (nsSNPs) have been found ne

68 ng variant leading to early truncation and a non-synonymous missense variant) in a pair of siblings a

69 A novel heterozygous non-synonymous mutation and a novel polymorphism in OMI/

70 pecific immune response against the virus; a non-synonymous mutation in an epitope region of the viru

71 The non-synonymous mutation of the H5 hemagglutinin (HA) gen

72 ing and non-coding regions and synonymous-to-non-synonymous mutation ratios suggest the neutral drift

73 etic variant under selection in Europeans (a non-synonymous mutation, C282Y) has been relatively well

74 number of other single-sample reports of IDH non-synonymous mutation, did not elevate cellular 2HG le

75 ation, we found that potentially deleterious non-synonymous mutations (9566 SNPs) explained as much g

76 ith reduced cAMP production arising from the non-synonymous mutations (n = 23) with patients with non

77 brary of 1.9 x 10(7) with over 8500 possible non-synonymous mutations and inferred the effects of eac

78 Missense or non-synonymous mutations are nucleotide substitutions th

79 ions how conserving, or radically different, non-synonymous mutations are with respect to some key am

80 Assuming all non-synonymous mutations cause resistance, we report 90%

81 Molecular modeling predicts that these non-synonymous mutations could disrupt NADPHO complex as

82 ntiating between neutral and disease-causing non-synonymous mutations documented in the human populat

83 We systematically analyzed ~10(6) non-synonymous mutations extracted from COSMIC, involvin

84 ly been linked to epithelial malignancy with non-synonymous mutations identified in both MTG8 and MTG

85 This identified 52 somatic non-synonymous mutations in 32 genes, many of which were

86 Significant excess of non-synonymous mutations in AKAP4 (p<0.02), a gene media

87 These data suggest that non-synonymous mutations in ASB10 do not cause Mendelian

88 We identify Asian-derived non-synonymous mutations in the AHR gene that associate

89 In two OS cases, we found de novo non-synonymous mutations in the genes KCNQ2 and SCN2A.

90 In this study we identified deleterious non-synonymous mutations in two cilia genes, Dnah11 and

91 approach, we introduce a barcoded library of non-synonymous mutations into hotspot codons 12 and 13 o

92 tations are detected using the synonymous to non-synonymous mutations ratio.

93 region may show a relatively large number of non-synonymous mutations that conserve a particular prop

94 nymous mutations (n = 23) with patients with non-synonymous mutations that had no reduction in cAMP (

95 erein we measure the effect of four adaptive non-synonymous mutations to the glycerol kinase (glpK) g

96 apolipoprotein A-V (APOA5), carriers of rare non-synonymous mutations were at 2.2-fold increased risk

97 ipoprotein receptor (LDLR), carriers of rare non-synonymous mutations were at 4.2-fold increased risk

98 or (hIP) variants, we recently discovered 18 non-synonymous mutations, all with frequencies less than

99 human protein and numerous spliced variants, non-synonymous mutations, and post-translational modific

100 databases) of 200 other GPCRs, with recorded non-synonymous mutations, confirmed a high frequency of

101 d over 260 000 somatic alterations including non-synonymous mutations, copy number variants and struc

102 in Southeast Asia there is a great excess of non-synonymous mutations, many of which cause radical am

103 l as two rare potentially disease-associated non-synonymous mutations, Q170H and R181G, in the ADAM10

104 the pattern of differences in synonymous and non-synonymous mutations, under the assumption of neutra

105 mutations as well as between synonymous and non-synonymous mutations.

106 e methods, its performance is not limited to non-synonymous mutations.

107 ncing of all MAP2K7 exons did not reveal any non-synonymous mutations.

108 eage trees branches following synonymous and non-synonymous mutations.

109 The majority of these mutations were non-synonymous, nonsense or splice variants, and were en

110 No single non-synonymous (NS) single nucleotide variant (SNV) nor

111 coding variants down to 0.05% frequency [57% non-synonymous (NS), 42% synonymous and 1% gain or loss

112 ren, we identified 93 SNPs, 15 of which were non-synonymous (NS).

113 ral selection, as inferred from the ratio of non-synonymous nucleotide divergence (d(N)) to synonymou

114 Based on non-synonymous nucleotide substitution rates, the calcyo

115 the R2R3-AtMYB phylogeny experienced excess non-synonymous nucleotide substitution upon gene duplica

116 across the entire coding region, the rate of non-synonymous nucleotide substitutions is approximately

117 Diversity estimates in non-synonymous nucleotides were on average 4x smaller th

118 increased with age, and many mutations were non-synonymous or resided in RNA coding genes and thus c

119 panzee ancestor to humans shows an excess of non-synonymous over synonymous substitutions, which is a

120 All but one non-synonymous polymorphism (a conservative substitution

121 nome-wide studies have strongly associated a non-synonymous polymorphism (rs16969968) that changes th

122 A non-synonymous polymorphism (rs35859249, p.Arg125Trp) in

123 A common non-synonymous polymorphism in TM6SF2 (rs58542926 c.449

124 , C397Y, A576V, E591G, R620Q, T1022A) due to non-synonymous polymorphisms in the HR gene.

125 ied potentially important human mAKAP coding non-synonymous polymorphisms located within or near key

126 Non-synonymous polymorphisms of both candidate genes rev

127 Non-synonymous polymorphisms were elevated in genes shar

128 ERAP1, including three novel and eight known non-synonymous polymorphisms.

129 nnotations, domains, secondary structure and non-synonymous polymorphisms.

130 level of hybridization potential relative to non-synonymous positions, and are multifunctional in the

131 ional SNPs considered, including synonymous, non-synonymous, predicted 'benign', predicted 'possibly

132 ction algorithms and conservation scores, 12 non-synonymous prediction algorithms and four cancer-spe

133 ified two with distinct, heterozygous, rare, non-synonymous PRICKLE2 variants (p.E8Q and p.V153I) tha

134 mutations in type I collagen, including five non-synonymous rare variants of unknown significance, of

135 Non-synonymous rates were significantly lower than expec

136 Association with non-synonymous rs17849502, previously reported in EA, wa

137 c rs78707713 and the lead SLC44A2 SNP is the non-synonymous rs2288904 previously shown to associate w

138 e polymorphisms, rs936938 (P=4.49 x 10(-8)), non-synonymous rs6537835 (P=3.26 x 10(-8)) and rs1877455

139 Recently, we reported that non-synonymous sequence variants in Niemann-Pick type C1

140 Five non-synonymous sequence variations were identified in th

141 tion (AAS) in a protein sequence is called a non-synonymous single nucleotide polymorphism (nsSNP).

142 Any variation (e.g. non-synonymous single nucleotide polymorphism or mutatio

143 lcyon gene from 80 human subjects revealed a non-synonymous single nucleotide polymorphism that abrog

144 gic receptor gene (ADRB2) contains a common, non-synonymous single nucleotide polymorphism, Gly16Arg,

145 mind that currently there are no variations (non-synonymous single nucleotide polymorphism, nsSNP) de

146 Common non-synonymous single nucleotide polymorphisms (ns-SNPs)

147 initiatives are generating extensive data on non-synonymous single nucleotide polymorphisms (nsSNPs)

148 Non-synonymous single nucleotide polymorphisms (nsSNPs)

149 Gauging the systemic effects of non-synonymous single nucleotide polymorphisms (nsSNPs)

150 Non-synonymous single nucleotide polymorphisms (nsSNPs)

151 Many non-synonymous single nucleotide polymorphisms (nsSNPs)

152 Non-synonymous single nucleotide polymorphisms (nsSNPs)

153 studies discovered at least eight validated non-synonymous single nucleotide polymorphisms (nsSNPs)

154 Non-synonymous single nucleotide polymorphisms (nsSNPs)

155 le-genome sequencing is identifying numerous non-synonymous single nucleotide polymorphisms (nsSNPs),

156 As the number of non-synonymous single nucleotide polymorphisms (nsSNPs),

157 Non-synonymous single nucleotide polymorphisms (SNPs) an

158 ant of this receptor (OR7D4 WM) contains two non-synonymous single nucleotide polymorphisms (SNPs), r

159 oll-like receptor signaling, harboring eight non-synonymous single nucleotide polymorphisms in its co

160 encing the AMCase gene exons we identified 8 non-synonymous single nucleotide polymorphisms including

161 The sheer volume of non-synonymous single nucleotide polymorphisms that have

162 ed SNAP to predict functional changes due to non-synonymous single nucleotide polymorphisms.

163 Non-synonymous single nucleotide variants (nsSNVs) in co

164 step in assessing the disruptive impacts of non-synonymous single nucleotide variants (nsSNVs) on hu

165 rently being sequenced, yielding millions of non-synonymous single nucleotide variants (SNVs) of poss

166 We identified 57 non-synonymous single nucleotide variants (SNVs) which w

167 ertained in Bogota, Colombia, we identify 28 non-synonymous single nucleotide variants that are consi

168 We focused on non-synonymous single nucleotide variants, also referred

169 th pre-computed predictions of the impact of non-synonymous single nucleotide variants, to facilitate

170 udy, we focus on a comprehensive analysis of non-synonymous single nucleotide variations (nsSNV) that

171 the reference followed by identification of non-synonymous Single Nucleotide Variations (nsSNVs) and

172 Identification of non-synonymous single nucleotide variations (nsSNVs) has

173 However, in human AQP4, only one non-synonymous single-nucleotide polymorphism (nsSNP) ha

174 A non-synonymous single-nucleotide polymorphism, A49T (rs9

175 d the impact of a comprehensive panel of 109 non-synonymous single-nucleotide polymorphisms (nsSNPs)

176 We assessed 41 common non-synonymous single-nucleotide polymorphisms (nsSNPs)

177 sed to visualize amino acid substitutions or non-synonymous single-nucleotide polymorphisms in indivi

178 t in human proteins, as shown by analysis of non-synonymous single-nucleotide polymorphisms.

179 Here we report de novo non-synonymous single-nucleotide variants (SNVs) by cond

180 ously found to harbour schizophrenia de novo non-synonymous single-nucleotide variants (SNVs; P=5.4 x

181 comes in form of protein-sequence altering (non-synonymous) single nucleotide variants (nsSNVs).

182 ewed nucleotide composition compared to both non-synonymous sites and non-coding regions.

183 hism and divergence data from synonymous and non-synonymous sites within genes.

184 ts affecting the evolution of synonymous and non-synonymous sites.

185 n linkage disequilibrium (LD) with rs7041, a non-synonymous SNP (D432E; P=4.1x10(-22)) and rs1155563

186 A non-synonymous SNP (encoding a Glu415Gly substitution) i

187 ial interest exists in determining whether a non-synonymous SNP (nsSNP), leading to a single residue

188 remaining CYP2J19 gene (CYP2J19(yb)), and a non-synonymous SNP in CYP2J40.

189 ulatory function at 8q23.3 and 16q22.1 and a non-synonymous SNP in RPHN2.

190 The peak signal in the 12p12.2 region was a non-synonymous SNP in SLCO1B1 (rs4149056, P = 6.7 x 10(-

191 ling evidence for a risk variant came from a non-synonymous SNP in the alpha5 nicotinic receptor subu

192 y-parallel sequencing, a strongly associated non-synonymous SNP in the CAPN1 gene, encoding the calci

193 A non-synonymous SNP in the LRP5 gene was associated with

194 A non-synonymous SNP in the MC1R gene (rs1805007 encoding

195 omputational method, called the SNP-IN tool (non-synonymous SNP INteraction effect predictor).

196 rs12676 (G233T), a non-synonymous SNP located in the CHDH coding region, is

197 e data sets, making them less than ideal for non-synonymous SNP prediction.

198 on a smaller group of SNPs that includes the non-synonymous SNP rs16969968, which retains a similar e

199 e, but only for a haplotype defined by three non-synonymous SNPs (C157R, M378V and M681T) that are ne

200 HRV SNPs tag non-synonymous SNPs (in NDUFA11 and KIAA1755), expressio

201 aracterization and validation of deleterious non-synonymous SNPs (nsSNPs) in the interleukin-8 gene u

202 297,245 non-synonymous SNPs and 3330 copy number variation (CNV)

203 ous for the derived allele at synonymous and non-synonymous SNPs and for the damaging allele at 'prob

204 a on pathogenic missense mutations, on human non-synonymous SNPs and on human-chimpanzee divergence o

205 Non-synonymous SNPs are 'neutral' if the resulting point

206 find that approximately one quarter of known non-synonymous SNPs are deleterious by these criteria, p

207 Interestingly, we found that these three non-synonymous SNPs have high posterior probabilities fo

208 Amino acid mutations resulting from non-synonymous SNPs in coding regions may generate prote

209 e population or the other, the proportion of non-synonymous SNPs is significantly higher in the EA sa

210 r colorectal cancer (CRC), we genotyped 1467 non-synonymous SNPs mapping to 871 candidate cancer gene

211 Schizophrenia risk-associated polymorphisms [non-synonymous SNPs rs821616 (Cys704Ser) and rs6675281 (

212 We identified conserved, ecotype-restricted, non-synonymous SNPs that are predicted to affect the pro

213 er hand, only a small percentage of SNPs are non-synonymous SNPs while many SNPs are actually located

214 e flexibility to include specific SNPs (e.g. non-synonymous SNPs) as tag SNPs.

215 redictions of the effect of point mutations (non-synonymous SNPs) on protein function (SNAP2).

216 nucleotide polymorphisms (SNPs) but not for non-synonymous SNPs, further indicating that the observe

217 ain Y-12632, with 41 and 13 genes containing non-synonymous SNPs, respectively.

218 Of these 132 SNPs (including two non-synonymous SNPs, rs1137100 and rs1137101), rs2767485

219 atures include automated selection of coding non-synonymous SNPs, SNP filtering based on inter-SNP di

220 tative trait loci data and correlations with non-synonymous SNPs, we identified many candidate genes

221 the prediction of the functional effects of non-synonymous SNPs.

222 or mutant specific binding, as compared with non-synonymous SNV derived neoantigens.

223 impacted by autism de novo SNVs (P=0.019 for non-synonymous SNV genes) did not survive Bonferroni cor

224 igh-affinity binders was three times that of non-synonymous SNV mutations.

225 tion Database and 10 002 putatively 'benign' non-synonymous SNVs from UCSC.

226 For non-synonymous SNVs present in proteins the difficulties

227 el (G12D), MNU tumours had an average of 192 non-synonymous, somatic single-nucleotide variants, comp

228 t a genome-wide level, our results implicate non-synonymous, splice site as well as stop-altering sin

229 Novel non-synonymous/splice-site variants in extracellular mat

230 Further genotyping indicated that a single non-synonymous substitution (A120G) in the N-terminal re

231 nd humans) and found that the synonymous and non-synonymous substitution (dN/dS) ratios in all pairs

232 The rate of non-synonymous substitution (omega = dN/dS), was high in

233 etrotransposons, the rates of synonymous and non-synonymous substitution among triplicated genes reta

234 lotypes differed from FFAR3 by only a single non-synonymous substitution and that the GPR42 reference

235 Furthermore, the rate of charge-altering non-synonymous substitution is approximately 1.8 times t

236 provide evidence for a significantly higher non-synonymous substitution rate than synonymous rate in

237 duplicated HoxA genes studied have a higher non-synonymous substitution rate than the corresponding

238 e provided evidence that marked increases of non-synonymous substitution rates occurred in anthropoid

239 nt biological scales for both synonymous and non-synonymous substitution rates, which is only compati

240 Interestingly, non-synonymous substitution was observed at lower rates

241 s a negative correlation between the rate of non-synonymous substitutions (d(N)) and codon usage bias

242 The rate of non-synonymous substitutions (dN) only marginally exceed

243 on-Hox nuclear gene RAG1 only an increase in non-synonymous substitutions could be detected, suggesti

244 ng selection, plausibly because advantageous non-synonymous substitutions have not yet accumulated.

245 otic genomes also shows clumping of multiple non-synonymous substitutions in the same lineage.

246 This suggests that excess non-synonymous substitutions in these helices could have

247 , and relative frequencies of synonymous and non-synonymous substitutions may not be useful to resolv

248 s associated with high frequencies of excess non-synonymous substitutions may play critical roles in

249 All three non-synonymous substitutions occurred in the same lineag

250 Our results reveal a remarkable excess of non-synonymous substitutions, an indication of adaptive

251 dons where rat-mouse divergence involved two non-synonymous substitutions, both of them occurred in t

252 equences showed the highest relative rate of non-synonymous substitutions, with dN/dS>14 in some pair

253 ven primates reveals a significant excess of non-synonymous substitutions.

254 otein sequence that were favored by frequent non-synonymous substitutions.

255 of 2,163 effects were detected, 282 effects (non-synonymous, synonymous or stop codon gained) were lo

256 Non-synonymous/synonymous (dN/dS) analyses were performe

257 Analysis of the non-synonymous/synonymous ratio in coding portions of th

258 d normal tissues of each patient, we found 7 non-synonymous tissue specific editing events including

259 potentials of genomic regions based on their non-synonymous to synonymous divergence rates, has been

260 ed proteins are encoded by genes that have a non-synonymous to synonymous mutation rate even greater

261 ach is to identify sites with high ratios of non-synonymous to synonymous mutations; however, if syno

262 The non-synonymous to synonymous nucleotide substitution rat

263 equence analysis showed a very high ratio of non-synonymous to synonymous nucleotide substitutions (K

264 Alleles with the largest ratio of non-synonymous to synonymous nucleotide substitutions al

265 the prediction method based on the ratio of non-synonymous to synonymous substitution rates (dN/dS)

266 It estimates the ratio of non-synonymous to synonymous substitution rates (K(A)/K(

267 are based on whether each site/region has a non-synonymous to synonymous substitution rates ratio om

268 The ratio of non-synonymous to synonymous substitution rates showed a

269 Non-synonymous to synonymous substitutions (Ka/Ks) among

270 The ratio of non-synonymous to synonymous substitutions indicated tha

271 es under selection by estimating the rate of non-synonymous to synonymous substitutions with multiple

272 rn of selection, estimated from the ratio of non-synonymous to synonymous substitutions, varied consi

273 The rate of non-synonymous-to-synonymous changes (dN/dS) shows a sec

274 e of evolution is not due solely to a higher non-synonymous-to-synonymous rate ratio but to an increa

275 loci, and one new independent low-frequency non-synonymous variant in an established heart rate locu

276 e allele shared among them was rs78247304, a non-synonymous variant of KCNH7 (c.1181G>A, p.Arg394His)

277 A novel rare non-synonymous variant of large effect size in SLC22A12,

278 We recently identified a novel non-synonymous variant, rs1143679, at exon 3 of the ITGA

279 tect suggestive association of a common FBN2 non-synonymous variant, rs154001 (p.Val965Ile) with AMD

280 the strongest enrichment for causality among non-synonymous variants (54x more likely to be causal, 1

281 tools have been developed to predict whether non-synonymous variants are neutral or disease-causing.

282 er sample sizes and appropriate weighting of non-synonymous variants by predicted functional impact.

283 We identified 7 rare non-synonymous variants in 7 of 20 genes and performed S

284 We detected 1561 unique, non-synonymous variants in kinase genes in the 92 cases,

285 Lead variants in four of the novel loci are non-synonymous variants in the genes C10orf71, DALDR3, T

286 We separately analyzed the non-synonymous variants predicted to damage protein stru

287 Seq annotated several thousand more reliable non-synonymous variants than other widely used tools (e.

288 an interim measure, exome arrays allow rare non-synonymous variants to be sampled at a fraction of t

289 Individuals with two or more MC1R non-synonymous variants were 3.59 times (95% CI=2.37-5.4

290 Non-synonymous variants were identified in only one of t

291 In total, three rare non-synonymous variants were identified, only one of whi

292 Two protective, low-frequency, non-synonymous variants were significantly associated wi

293 phenotypic variation has expanded beyond the non-synonymous variants which alter the amino acid seque

294 dentified gene-wide associations of uncommon non-synonymous variants within UBAP2 and STARD9.

295 We identified 16 non-synonymous variants, six of which were not identifie

296 ) more likely to have BCC than those without non-synonymous variants.

297 ants down to 21 very rare (<0.1% frequency), non-synonymous variants.

298 a prediction method that measures paucity of non-synonymous variation in the human population to infe

299 ate that one of the haplotypes, carrying the non-synonymous variation known to code for a less stable

300 A subset of the hundreds of non-synonymous variations we identified was experimental