ライフサイエンスコーパス: nonsynonymous mutation

1 for understanding the biological impact of a nonsynonymous mutation.

2 the G-CSFR, and its NZM2410 allele carries a nonsynonymous mutation.

3 sequences based on nonrandom accumulation of nonsynonymous mutations.

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

5 mutations within protein-coding regions were nonsynonymous mutations.

6 and find weak evidence for selection against nonsynonymous mutations.

7 r-albeit nonidentical-between synonymous and nonsynonymous mutations.

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

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

10 identified genes affected by extremely rare nonsynonymous mutations.

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

12 entified several genes that harbor recurrent nonsynonymous mutations.

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

14 ce leading to the asymmetric accumulation of nonsynonymous mutations.

15 In the AML phase, we found 12 acquired nonsynonymous mutations.

16 Of 26 base changes, 54% produced nonsynonymous mutations.

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

18 The Alpha variant contains 19 nonsynonymous mutations across its viral genome, includi

19 s represented by mobile genetic elements and nonsynonymous mutations affecting antibiotic resistance

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

21 ethod looks for regions with overrepresented nonsynonymous mutations along the alignment, and require

22 Nonsynonymous mutations altered amino acids with nonpola

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

24 About 0.5% of the nonsynonymous mutations and 14% of the nonsynonymous sub

25 Analysis of the Lnk gene revealed that both nonsynonymous mutations and expression changes had sex-d

26 Nine changes were nonsynonymous mutations and two were nonsense mutations.

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

28 tion, accumulation of synonymous rather than nonsynonymous mutations, and conserved N-glycosylation s

29 the accelerated accumulation of AS isoforms, nonsynonymous mutations, and gene structure rearrangemen

30 ns more frequently, are more polymorphic for nonsynonymous mutations, and have shorter evolutionary l

31 ing selection such that more than 90% of all nonsynonymous mutations are deleterious.

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

33 ith the prediction of rare-allele advantage, nonsynonymous mutations are found to be positively selec

34 Neoantigens generated by somatic nonsynonymous mutations are key targets of tumor-specifi

35 urifying selection and positive selection on nonsynonymous mutations are pervasive.

36 This can be explained if both upstream and nonsynonymous mutations are slightly deleterious and are

37 variation, (ii) that the fitness effects of nonsynonymous mutations are well predicted by several me

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

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

40 ofold degenerate sites are more neutral than nonsynonymous mutations at nondegenerate sites, and that

41 We also found that nonsynonymous mutations at twofold degenerate sites are

42 ese mothers and infants revealed that 14% of nonsynonymous mutations away from the consensus sequence

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

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

45 of attenuation, we therefore tested the five nonsynonymous mutations by cloning them individually or

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

47 microscopic studies revealed that a specific nonsynonymous mutation (C1375A) in the G(N)/G(C) ORF of

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

49 nfectious cDNA was engineered by introducing nonsynonymous mutations contained in the MERS(MA)-6-1-2

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

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

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

53 Both synonymous and nonsynonymous mutations frequently disturbed the level o

54 efficients against heterozygous, deleterious nonsynonymous mutations from two different methods sugge

55 set characterized by specific differences in nonsynonymous mutations, gene set expression, three-biom

56 Although hitchhiking around beneficial nonsynonymous mutations has significantly shaped genetic

57 viruses than in DNA viruses, indicating that nonsynonymous mutations have been removed at a greater r

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

59 A particular nonsynonymous mutation in a putative glucose transporter

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

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

62 Moreover, association in lp5-like involves a nonsynonymous mutation in linkage disequilibrium with tw

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

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

65 ling the effectors of these regulons found a nonsynonymous mutation in spoT in one population.

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

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

68 tissue-specific high-frequency variant was a nonsynonymous mutation in the furin-cleavage site of the

69 netic complementation tests, we associated a nonsynonymous mutation in the major T. urticae chitin sy

70 Exon sequencing analysis also uncovered nonsynonymous mutations in 1 out of 7 (14%) cell lines (

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

72 Using only sequence analysis, we annotate nonsynonymous mutations in 25,824 maize gene models, wit

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

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

75 mutations equals the mean age of segregating nonsynonymous mutations in a sample of DNA sequences.

76 ting neoantigens, which arise from recurrent nonsynonymous mutations in AML and thus represent attrac

77 their unaffected parents to identify de novo nonsynonymous mutations in ATP1A3 in all seven individua

78 ynonymous mutations could be as important as nonsynonymous mutations in causing disease, assuming the

79 3 gene (encoding CREB-H) identified multiple nonsynonymous mutations in CREB3L3 in individuals with e

80 We identified multiple nonsynonymous mutations in CREB3L3 that produced hypomor

81 We estimate that between 1% and 2% of new nonsynonymous mutations in D. melanogaster are positivel

82 se target of positive selection, we identify nonsynonymous mutations in ERBB3, ESYT1, and STAT2-all o

83 red type 2 diabetes risk in individuals with nonsynonymous mutations in GPR151.

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

85 hed distributions of fitness effects for new nonsynonymous mutations in humans, we show in large-scal

86 ed to predict impairment of gene function by nonsynonymous mutations in individual genomes and single

87 e was a marked reduction in the frequency of nonsynonymous mutations in interhost comparisons.

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

89 We find that 17 bacterial genes acquired nonsynonymous mutations in multiple individuals, which i

90 Sequence analysis identified nonsynonymous mutations in nonstructural protein 12 RNA-

91 nfection, we studied a RRV strain encoding 6 nonsynonymous mutations in nsP1 (RRV-T48-nsP1(6M)) that

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

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

94 Furthermore, we uncovered nonsynonymous mutations in plausible candidate genes for

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

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

97 discovery screen revealed significantly more nonsynonymous mutations in the carcinomas obtained from

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

99 correlated with the rate of accumulation of nonsynonymous mutations in the head-on genes, suggesting

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

101 Four nonsynonymous mutations in the ligand-binding domain wer

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

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

104 We identified two rare nonsynonymous mutations in the PASK gene (p.L1051V and p

105 ng revealed that each mutant had one of nine nonsynonymous mutations in the phi6 gene P3, important i

106 The Cancer Genome Project identified three nonsynonymous mutations in the ROCK1 gene.

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

108 Sequence analysis identified 4 nonsynonymous mutations in the third passage virus.

109 Nonsynonymous mutations in the UBIAD1 gene were detected

110 correlation between LDs at the same pairs of nonsynonymous mutations in the USA and the Russian popul

111 Pyrethroid-resistant aphids have nonsynonymous mutations in the voltage-gated sodium chan

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

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

114 These findings demonstrate that nonsynonymous mutations indicate selection pressure rath

115 sms were identified, consisting primarily of nonsynonymous mutations, indicating positive selection a

116 model in which the selective effect of each nonsynonymous mutation is regarded as a random sample fr

117 f the variance in fitness contributed by new nonsynonymous mutations is caused by mutations at very l

118 t in one of the data sets the average age of nonsynonymous mutations is significantly lower than the

119 , which measures the fixation probability of nonsynonymous mutations, is correlated with the strength

120 The estimated rate of nonsynonymous mutations (Ka) in the anchor-determining d

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

122 Other nonsynonymous mutations mapped to a pmpG pseudogene and

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

124 When expressed later in life, genes fix nonsynonymous mutations more frequently, are more polymo

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

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

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

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

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

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

131 observed no effect of individual TRIM5alpha nonsynonymous mutations on the in vitro HIV-1 susceptibi

132 rphisms unique to the mutant, including nine nonsynonymous mutations, one leading to a truncation of

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

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

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

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

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

138 a, and a median number of 112 (range: 6-563) nonsynonymous mutations per patient were identified.

139 CPSI BAC construct was suitable for studying nonsynonymous mutations, potential splicing defects, and

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

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

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

143 We developed a program, 'Synonymous-Nonsynonymous Mutation Rates between Sequences Containin

144 A positive status was associated with higher nonsynonymous mutation rates of multiple genes, includin

145 We estimate that on average a nonsynonymous mutation reduces fitness by a few percent

146 ng of a mouse APL genome revealed 3 somatic, nonsynonymous mutations relevant to APL pathogenesis, of

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

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

149 All 5 carry 2 nonsynonymous mutations resulting in a D723H mutation in

150 arameters and distribution of synonymous and nonsynonymous mutations revealed that different coding r

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

152 High mutation rates and high proportions of nonsynonymous mutations suggested immune pressure and po

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

154 Such compensatory events include nonsynonymous mutations, synonymous mutations, and mutat

155 Eight nonsynonymous mutations (T220I, R340Q, T1304M, F1596I, R

156 greater accumulation of both synonymous and nonsynonymous mutations than in the more conserved regio

157 ly two mutations per Mb, with a median of 45 nonsynonymous mutations that altered the amino acid sequ

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

159 Those nonsynonymous mutations that are observed tend to be fou

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

161 lysis suggests that approximately 95% of all nonsynonymous mutations that could contribute to polymor

162 hanges in protein coding genes, particularly nonsynonymous mutations that directly affect the gene pr

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

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

165 rs with low viral loads selected against the nonsynonymous mutations that might have resulted in viru

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

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

168 ino acid substitutions and the mean ratio of nonsynonymous mutations to synonymous mutations were gre

169 gions targeted by the infant, whereas 24% of nonsynonymous mutations toward the consensus sequence we

170 nserved gene; a total of 22 synonymous and 3 nonsynonymous mutations was identified in the lpd gene o

171 As expected, numerous nonsynonymous mutations were associated with described C

172 ent intervals revealed that most acute-phase nonsynonymous mutations were clustered in class I epitop

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

174 In the four MPMs, 15 nonsynonymous mutations were discovered: 7 were point mu

175 Four novel nonsynonymous mutations were found to be significantly a

176 Two additional nonsynonymous mutations were identified in one sample in

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

178 Nonsynonymous mutations were significantly less prevalen

179 tively correlated with CD4 cell count, while nonsynonymous mutations were strongly correlated with re

180 Five heterozygous, nonsynonymous mutations (which cause an amino acid chang

181 ntifying only a single cosegregating, novel, nonsynonymous mutation, which resides in the gene NOL3.

182 isease progression showed selection favoring nonsynonymous mutations, while nonprogressors with low v

183 th mechanisms that select B cells based upon nonsynonymous mutations within CDR-encoded regions.

184 Both synonymous and nonsynonymous mutations within Exin21 diminished its boo

185 encing of mbrA in strain MB identified three nonsynonymous mutations within the nucleotide sequence,