ライフサイエンスコーパス: nonsynonymous mutation

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

2 sequences based on nonrandom accumulation of nonsynonymous mutations.

3 mutations within protein-coding regions were nonsynonymous mutations.

4 and find weak evidence for selection against nonsynonymous mutations.

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

6 identified genes affected by extremely rare nonsynonymous mutations.

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

8 entified several genes that harbor recurrent nonsynonymous mutations.

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

10 ce leading to the asymmetric accumulation of nonsynonymous mutations.

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

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

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

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

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

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

17 Nonsynonymous mutations altered amino acids with nonpola

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

40 Although hitchhiking around beneficial nonsynonymous mutations has significantly shaped genetic

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

42 A particular nonsynonymous mutation in a putative glucose transporter

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

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

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

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

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

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

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

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

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

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

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

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

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

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

57 3 gene (encoding CREB-H) identified multiple nonsynonymous mutations in CREB3L3 in individuals with e

58 We identified multiple nonsynonymous mutations in CREB3L3 that produced hypomor

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

78 Nonsynonymous mutations in the UBIAD1 gene were detected

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

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

81 These findings demonstrate that nonsynonymous mutations indicate selection pressure rath

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

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

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

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

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

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

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

89 Other nonsynonymous mutations mapped to a pmpG pseudogene and

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

119 Those nonsynonymous mutations that are observed tend to be fou

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

135 Nonsynonymous mutations were significantly less prevalen

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

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

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

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

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