ライフサイエンスコーパス: frameshift

1 rongly dependent upon a programmed ribosomal frameshift.

2 purine pairing opposite 1,N(6)-dA and for -1 frameshifts.

3 tion of an abasic site resulted in mainly -1 frameshifts.

4 ollows a purine rule, which can also lead to frameshifts.

5 )-epsilonG induces various substitutions and frameshifts.

6 truncated gamma that is created by ribosomal frameshifting.

7 lower stem (LS) structure are important for frameshifting.

8 cipher the mechanism of programmed ribosomal frameshifting.

9 irus- or host-specific factors that modulate frameshifting.

10 the recoding site promote a precise level of frameshifting.

11 rtant role in biological functions including frameshifting.

12 ulatory and polyamine sensitizing effects on frameshifting.

13 shift site alone only supports low levels of frameshifting.

14 iple ribosomal translocation attempts during frameshifting.

15 egisters reminiscent of programmed ribosomal frameshifting.

16 Programmed -1 ribosomal frameshifting (-1 PRF) is used by many positive-strand R

17 WNV uses programmed -1 ribosomal frameshifting (-1 PRF) to synthesize the NS1' protein, a

18 alphaviruses utilize programmed -1 ribosomal frameshifting (-1 PRF) to synthesize the viral trans-fra

19 hese viruses utilize programmed -1 ribosomal frameshifting (-1 PRF) to synthesize the viral trans-fra

20 ch mechanism, termed -1 programmed ribosomal frameshifting (-1 PRF), to engineer ligand-responsive RN

21 ceptors of tRNA(Pro), are highly prone to +1 frameshift (+1FS) errors.

22 Programmed -1 ribosomal frameshifting (-1PRF) is tightly regulated by messenger

23 nultimate exon of DVL1 and resulting in a -1 frameshift allele with a premature termination codon tha

24 , as were mice with a CRISPR/Cas9-engineered frameshift allele.

25 we show that the induction of translational frameshifting also occurs under stressful conditions.

26 4 different novel variants (2 splice site, 2 frameshift and 10 missense changes) in GNB1 in 16 pediat

27 nowledge, previously unreported, including 5 frameshift and 10 missense variants.

28 to usage of this novel motif, resulting in a frameshift and a premature termination codon.

29 Inclusion of exon 33L causes frameshift and C-terminal truncation.

30 ave been reported, but all result in a +1-bp frameshift and generate a novel protein C terminus.

31 520del mutation in exon 2 that resulted in a frameshift and premature stop codon (p.Ala174Profs( *)35

32 Patients were compound heterozygous for frameshift and splice site mutations leading to reduced,

33 all nine YAP1 spliceforms, and results in a frameshift and subsequent premature termination codon in

34 ORF that encodes the copper pump frequently frameshift and terminate to produce the copper chaperone

35 o deletion of 65bp, predicted to result in a frameshift and therefore a truncated protein (p.Asp298Va

36 cases (18 missense, one splice acceptor, one frameshift and two near splice regions) and five in cont

37 nfluenza A virus shift site, triggers the +1 frameshifting and is enhanced by the increased propensit

38 tential link between -1 programmed ribosomal frameshifting and response of a pseudoknot (PK) RNA to f

39 Frameshifting and splice site mutations were common, fou

40 nconventional initiation, but also ribosomal frameshifting and/or imperfect repeat DNA replication, e

41 rtion or deletion errors in genes will cause frameshifts and may only lead to marginal alignment scor

42 different truncating mutations including two frameshifts and one nonsense variant in RE1-silencing tr

43 umber variants, such as hemizygous nonsense, frameshift, and missense changes in IL2RG; compound hete

44 c.1164-1G>A splice-site, p.Gln358SerfsTer13 frameshift, and p.Gln376Arg missense mutations are likel

45 LOF mutations were defined as nonsense, frameshift, and splice-site variants, along with missens

46 unteracted by TraR antiactivation, ribosomal frameshifting, and FseA antiactivation.

47 ns and insertions in exon 9 inducing a -1/+2 frameshift are associated with a significant fraction of

48 In some cases frameshifts are also common.

49 els are enriched in PIK3R1 and EGFR, whereas frameshifts are prevalent in VHL, GATA3, TP53, ARID1A, P

50 , gap costs and letter abundances; and FALP (Frameshift Ascending Ladder Program) performs a similar

51 meshifting, the proportion of ribosomes that frameshift at a shift-prone site is enhanced by specific

52 al antizyme requires programmed +1 ribosomal frameshifting at the 3' end of the first of two partiall

53 provides parallels with programmed ribosomal frameshifting at the translation level.

54 Our results contradict a model of frameshifting based on structural rigidity and resistanc

55 phenotype due to monoallelic truncating and frameshift BMP2 variants and deletions in 12 individuals

56 y), 1 splice site (c.1282A>C p.Ser428Arg), 1 frameshift (c.470delC; p.Gly158Alafster55), and 1 nonsen

57 In family 2, compound heterozygous frameshift, c.2352_2353insC (p.Arg785Glnfs( *)23), and s

58 The resulting frameshift causes a premature STOP codon and loss of maj

59 is in the first family detected a homozygous frameshift change [c.606delinsTA; p.(Lys202Asnfs*?)].

60 examined the impact of germline heterozygous frameshift Chd8 mutation on neurodevelopment in mice.

61 Existing frameshift correction tools are designed for data with m

62 Using exome sequencing we found a frameshift deletion (c.1554_1555del leading to p.E518Dfs

63 rebrain neurons from the subjects carrying a frameshift deletion in DISC1 C-terminus.

64 The patient had a homozygous frameshift deletion in IFNGR2, which encodes the signal

65 ygous variants (a large in-frame deletion, a frameshift deletion, and a missense variant) were predic

66 13 of these cases carried an identical 4-bp frameshift deletion, resulting in a truncated protein.

67 e identified 24 nonsynonymous variants and 2 frameshift deletions in CHRNA5, including 9 novel varian

68 Synthesis of a proportion of non-ribosomal frameshift derived GagPol would be relevant in efforts t

69 ms a similar task, although more slowly, for frameshifting DNA-protein alignments.

70 ormational plasticity of the high-efficiency frameshifting double mutant of the 26 nt potato leaf rol

71 que in their C termini due to a -1 ribosomal frameshift during translation.

72 Finally, HIV-1 mutants with enhanced frameshift efficiencies are significantly less infectiou

73 Mutant viruses with increased frameshift efficiencies have significantly reduced infec

74 eshift site RNA stem-loop structure increase frameshift efficiency 2-fold to 3-fold in cells.

75 ity of the frameshift site RNA increases the frameshift efficiency 2-fold to 3-fold.

76 The data reveal a strong correlation between frameshift efficiency and local, but not overall, RNA th

77 g genomic RNA secondary structure influences frameshift efficiency and that a mutation that commonly

78 ous, suggesting that compounds that increase frameshift efficiency by as little as 2-fold may be effe

79 Thus, frameshift efficiency is determined by the strength of t

80 oduct of our work is the suggestion that the frameshift efficiency is likely determined by the stabil

81 ype 1 (HIV-1) RNA frameshift site stem-loop, frameshift efficiency, and infectivity, using pseudotype

82 As a result, the frameshifting efficiency increases from 0 to 70% (one of

83 nt HIV strains to demonstrate that in cells, frameshifting efficiency is correlated with the stabilit

84 ity is identified as a determining factor in frameshifting efficiency.

85 The frameshifting elements comprise both a ribosomal slipper

86 Specifically, csoS2 was found to possess -1 frameshifting elements that lead to the production of th

87 s the codon recognition patterns and reduces frameshifting errors during translation.

88 ag gene performing a programmed -1 ribosomal frameshift event to enter the overlapping pol gene.

89 Correct annotation of a programmed frameshifting event requires manual evaluation.

90 ducing an activator of rdfS expression named Frameshifted excision activator (FseA).

91 fidelity attributable to the loss of Upf (up-frameshift) factors, defective release factors, or the p

92 Frameshift (FS) indels are enriched in olfactory recepto

93 o accumulate, but it is unknown how dominant frameshift (fs) mutations that encode DNase-active but m

94 we demonstrate that the cancer-related UVRAG frameshift (FS), which does not result in a null mutatio

95 ns in approximately 15%, containing multiple frameshifted genes and BRAF(V600E); (2) nonhypermutated

96 testing revealed, to our knowledge, a novel frameshift heterozygous mutation in RAX2 in the patients

97 ntified an inherited 2 bp deletion causing a frameshift in BRPF1 (c.1052_1053del) in five affected fa

98 These considerations point to a frameshift in ligand design for vanadium complexes as ph

99 tations in KRT1, showing that a polyarginine frameshift in the keratin-1 tail can also cause this dis

100 nticodon-codon interaction, which induces +1 frameshift in the P site of ribosome.

101 s: Exclusion of specified exons introduces a frameshift in variants v5es, v6es and v7es.

102 Here we show that frameshifting in a model RNA virus, encephalomyocarditis

103 rus virulence protein generated by ribosomal frameshifting in segment 3 of influenza virus coding for

104 a novel GFP-based method to monitor antizyme frameshifting in vivo, we show that the induction of tra

105 human homolog of copA, and direct ribosomal frameshifting in vivo.

106 checkpoint inhibitor response data revealed frameshift indel count to be significantly associated wi

107 n/deleterious single-nucleotide variants and frameshift indels (that is, extreme mutations, P<4.5 x 1

108 yndrome, all variants in DVL3 result in a -1 frameshift, indicating that these highly specific altera

109 c.908-1 G>A in a splice acceptor and a novel frameshift insertion c.859_860insACCT.

110 t DNA footprint that can create in-frame and frameshift insertions in coding sequences.

111 ost common strategy is the introduction of a frameshift into the open reading frame (ORF) of the targ

112 We conclude that the P158PfsX22 frameshift introduces a gain of function that gives rise

113 This type of editing corrects frameshifts, introduces translation punctuation signals,

114 The frameshift is the sensor and effector in an autoregulato

115 Programmed -1 ribosomal frameshifting is a mechanism of gene expression, whereby

116 The high efficiency of frameshifting is achieved by the combined stimulatory ac

117 ere we show that the the trans-activation of frameshifting is carried out by a protein complex compos

118 Thus, frameshifting is essential for viral replication.

119 Frameshifting is induced by mRNA secondary structures th

120 Together with dynamic codon redefinition, frameshifting is one of the forms of recoding that enric

121 polyamine-independent regulation of antizyme frameshifting is suggested.

122 Ribosomal frameshifting is utilized for the synthesis of additiona

123 ppage site, which is important for ribosomal frameshifting, is shown here to limit reverse transcript

124 These results suggest that suppression of frameshifting may be needed in the absence of an active

125 findings elevate our understanding of the +1 frameshift mechanism and provide a useful guidance for f

126 the template, explaining the proclivity for frameshift misincorporation.

127 The mutation spectrum includes frameshift, missense and splice site variants and one si

128 Mosaicism with Repeat Frameshift (MORF) allows a single Bacterial Artificial C

129 /09 (H1N1, Cal), containing mutations at the frameshift motif in the polymerase PA gene (Cal PA-XFS).

130 and c.404T>C [p.Leu135Pro]) and the REEP6.1 frameshift mutant in cultured cells suggest that these c

131 tients with CD who were heterozygous for the frameshift mutation (6% of CD cases analyzed) had reduce

132 family from New Zealand with a heterozygous frameshift mutation (c.465dupA) in exon 7.

133 We tested the hypothesis that a deletion and frameshift mutation (C563fsX673) in the CEL VNTR causes

134 e been described to date, with the c.649dupC frameshift mutation accounting for the majority of cases

135 and characterization of a novel heterozygous frameshift mutation affecting the carboxy-terminus (439f

136 re, we observed that a known illness-related frameshift mutation after amino acid 807 causes the C re

137 ctivates a cryptic splice site, leading to a frameshift mutation and a premature stop codon that rend

138 tary motor neuropathy of a dominant-negative frameshift mutation at the C-terminus of choline transpo

139 he consequences of a familial PAH-associated frameshift mutation in CAV1, P158PfsX22, on caveolae ass

140 p1 or pgp2 or a reduction in curvature due a frameshift mutation in cjj81176_1105, a putative peptido

141 le-genome sequencing identified a homozygous frameshift mutation in CORO1A disrupting the last 2 C-te

142 he discovery cohort, we associated CD with a frameshift mutation in CSF2RB (P = 8.52 x 10(-4)); the f

143 on in DUOX2 that impaired its function and a frameshift mutation in CSF2RB that was associated with C

144 We identified a frameshift mutation in CSF2RB that was replicated in an

145 Jewish individuals, we associated CD with a frameshift mutation in CSF2RB.

146 Tapasin loss is caused by a germ-line frameshift mutation in exon 3 (TAPBP(684delA)) along wit

147 We report an ultra-rare, heterozygous frameshift mutation in FZD5 (p.Ala219Glufs*49) that was

148 Restoration of pathogenicity by repair of a frameshift mutation in GPCMV gene GP129 using this appro

149 bouriffe (ebo/ebo) harbors a homozygous 2-bp frameshift mutation in Lrrc8a that truncates the 15 term

150 lele frequency of 0.1% and found a recessive frameshift mutation in MYL4 that causes early-onset atri

151 In the fifth family, we identified a frameshift mutation in NNT, a nuclear-encoded mitochondr

152 A frameshift mutation in pgp1 of our laboratory isolate of

153 ygome/exome analysis identified a homozygous frameshift mutation in RSPRY1 with resulting nonsense-me

154 ous cell carcinomas identified a case with a frameshift mutation in SCCRO that putatively codes for a

155 ete PAI-1 deficiency because of a homozygous frameshift mutation in SERPINE-1.

156 f the COL13A1 c.1171delG (p.Leu392Sfs( *)71) frameshift mutation in the C2C12 cell line reduced acety

157 er disrupted the start codon or introduced a frameshift mutation in the early coding region, ensuring

158 Genome sequencing identified a frameshift mutation in the eccCa1 gene.

159 A novel homozygous frameshift mutation in the gene encoding for LAT was ide

160 equencing identified a heterozygous germline frameshift mutation in the gene encoding nitrogen permea

161 ailable from one patient showed a homozygous frameshift mutation in tripeptidyl peptidase II (TPP2) a

162 This frameshift mutation leads to a caveolin-1 protein that c

163 This frameshift mutation leads to caveolin-1 protein that con

164 premature stop codon introduced by the CHADL frameshift mutation results in nonsense-mediated decay o

165 The frameshift mutation results in the production of a trunc

166 utation (one missense, one nonsense, and one frameshift mutation) in GPR126.

167 a large Israeli family revealed a homozygous frameshift mutation, c.947delA (p.Lys316Serfs( *)90), an

168 We identified a novel ESR2 frameshift mutation, c.948delT, which segregated with hi

169 on of translation occurred downstream of the frameshift mutation, probably at the BRCA1-Met-297 codon

170 ce isolate, where the gene is disrupted by a frameshift mutation, resulting in a pseudogene.

171 4.0 x 10(-12), odds ratio (OR) = 16.7) and a frameshift mutation, rs532464664 (p.Val330Glyfs*106), in

172 es); two siblings shared the same homozygous frameshift mutation, whereas one individual with sporadi

173 escribe a new humanized FUS-ALS mouse with a frameshift mutation, which fulfils both criteria: the FU

174 he dG(1,8) site, creating a complex for "-2" frameshift mutation.

175 lls required TGFBR2-even the form encoding a frameshift mutation.

176 lls from schizophrenia patients with a DISC1 frameshift mutation.

177 ng whole-exome sequencing, we identified two frameshift mutations (c.981_993del [p.Gln327Hisfs( *)102

178 n PTPN22 was identified, including two novel frameshift mutations (ss538819444 and rs371865329) and t

179 duce exon skipping; the other mutations were frameshift mutations and a deletion.

180 , we identified three independent homozygous frameshift mutations and a homozygous deletion of two ex

181 We identified two homozygous frameshift mutations and a homozygous nonsense mutation

182 We detected two unique frameshift mutations and one duplication in three patien

183 y changes: either a straight morphology from frameshift mutations and single nucleotide polymorphisms

184 tal age on base substitutions, we found that frameshift mutations and transposition events increased

185 A in which functional loss from nonsense and frameshift mutations and/or targeted deletions is observ

186 l cancer patients with peptides derived from frameshift mutations found in their tumors.

187 l cancers from two independent cohorts where frameshift mutations in 19 genes were analyzed and CD3(+

188 heterozygous ACTB deletions and nonsense and frameshift mutations in 33 individuals with developmenta

189 d either homozygous or compound heterozygous frameshift mutations in 4 of 33 unrelated cases of LQTS

190 de novo heterozygous missense, nonsense, and frameshift mutations in BCL11A, encoding a transcription

191 k established between CD8(+) TIL density and frameshift mutations in colorectal cancer.

192 iseases, with higher frequencies of nonsense/frameshift mutations in DLBCL compared with FL.

193 lysis of patients revealed several different frameshift mutations in intron 6 or exon 7 of KRT10.

194 rare, autosomal dominant disorder caused by frameshift mutations in KRT10 or KRT1 and characterized

195 We identified two missense and one frameshift mutations in one Pakistani and two Turkish fa

196 enotype resulted from nonsense, missense, or frameshift mutations in prfA Five strains carried hly mu

197 re is thought to reflect the accumulation of frameshift mutations in sequences that are repeated with

198 Frameshift mutations in the calreticulin (CALR) gene are

199 Recently, frameshift mutations in the caveolar structural protein

200 ymptomatic carriers, we identified recurrent frameshift mutations in the cohesin-associated factor PD

201 ditional 1515 CD cases and 7052 controls for frameshift mutations in the colony-stimulating factor 2-

202 oth type 2P (CMT2P) has been associated with frameshift mutations in the RING domain of LRSAM1 (an E3

203 some MSI-H CRC cells despite the presence of frameshift mutations in the TGFBR2 gene because the muta

204 In addition, four frameshift mutations including three novel mutations of

205 function as a transcription factor, or were frameshift mutations leading to TCF12 truncated for this

206 tations that fall on interfaces and nonsense/frameshift mutations that result in truncated negative r

207 The introduction of frameshift mutations to exon 11 resulted in nonsense-med

208 sing even further when at least one of these frameshift mutations was present in all tumor cells.

209 In total, six distinct frameshift mutations were found in eight subjects, and a

210 TIL densities increased when frameshift mutations were present within the ASTE1, HNF1

211 tations, 10 indels, 14 nonsense mutations, 9 frameshift mutations, and 5 splice-site mutations.

212 ases were characterized by both missense and frameshift mutations, and enzymatic activity of BAP1 mis

213 he mutations include missense, nonsense, and frameshift mutations, as well as splice-site and deletio

214 MSI tumors had increased frameshift mutations, showed genetic evidence of immunoe

215 Null alleles with ACC2 nonsense mutations, frameshift mutations, small deletions, genomic rearrange

216 ne repair, leading to substitution and short frameshift mutations, they are both a source of genome d

217 FOS-induced mutation was characterized by +1 frameshift mutations, which increased from 0% in control

218 which is specifically affected by one of the frameshift mutations.

219 tures present in subjects with DVL1 and DVL3 frameshift mutations.

220 ds to large numbers of base substitution and frameshift mutations.

221 rrelated positively with the total number of frameshift mutations.

222 ndary somatic loss-of-function (nonsense and frameshift) mutations in SAMD9 rescued the growth-restri

223 We investigated whether the frameshift nature of indel mutations, which create novel

224 hed in olfactory receptor activity while non-frameshift (NFS) indels are enriched in transcription-re

225 Severe (large deletions, frameshift, nonsense, and essential splicing) and missen

226 suggest this may parallel the role of CREBBP frameshift/nonsense mutations in DLBCL that result in lo

227 Such frameshifting normally occurs at a set ratio and is util

228 A basal level of frameshifting occurring in the absence of the RSE increa

229 -1 frameshifting occurs on Escherichia coli's dnaX mRNA con

230 The stochastic frameshift of the unstable repeat DNA in a subset of BAC

231 One class of regulatory frameshifting of stable chromosomal genes governs cellul

232 ht function as trans-acting switches to turn frameshifting on or off in response to cellular conditio

233 Homozygous frameshift or in-frame deletions in CD70 in these patien

234 LEKHM2 cDNA2156_2157delAG variant causes the frameshift p.Lys645AlafsTer12 and/or the skipping of exo

235 8*], p.[Q222*], p.[Q318*], and p.[R729*]), 2 frameshift (p.[A1048fs*13], p.[L849Afs*3]), and a splice

236 a novel viral protein expressed by ribosomal frameshifting, PA-X, was found to play a major role in i

237 RNA viruses for translational readthrough or frameshifting past termination codons for the synthesis

238 nerated a novel antibody to the unique human frameshift peptide epitope, allowing specific identifica

239 d with rhodopsin biosynthesis defects, while frameshift phenotypes were consistent with knockout.

240 Here we show that a +1 programmed ribosomal frameshift (PRF) fuses the coding sequences of two TraR-

241 ational control through programmed ribosomal frameshifting (PRF) is exploited widely by viruses and i

242 tivating a unique -2/-1 programmed ribosomal frameshifting (PRF) signal for the expression of framesh

243 Programmed ribosomal frameshifting produces alternative proteins from a singl

244 eshifting (PRF) signal for the expression of frameshifting products.

245 The frameshift promoting signals mostly impair the EF-G-cata

246 tigate and characterize the role of human up-frameshift protein 1 (hUPF1), an RNA helicase and master

247 is mutation in KRT1 resulted in a C-terminal frameshift, replacing 22 C-terminal amino acids with an

248 nal tools are unable to predict a programmed frameshift, resulting in misannotation of antizyme trans

249 Here, the NS1' frameshift signals derived from four WNV strains were in

250 erichia coli dnaX gene, which contains three frameshifting signals: a slippery sequence (A AAA AAG),

251 Saccharomyces cerevisiae antizyme mRNA, the frameshift site alone only supports low levels of frames

252 a distinct pattern of conservation 5' of the frameshift site consistent with a function at the amino

253 conserved RNA secondary structure 3' of the frameshift site has weaker stimulatory and polyamine sen

254 Increasing the stability of the frameshift site RNA increases the frameshift efficiency

255 modestly increase the local stability of the frameshift site RNA stem-loop structure increase framesh

256 amic stability of the HIV type 1 (HIV-1) RNA frameshift site stem-loop, frameshift efficiency, and in

257 re no sequence-specific requirements for the frameshift site stem-loop.

258 em-loop secondary structure, together called frameshift stimulating signal (FSS).

259 stem-loop] secondary structure known as the frameshift stimulating signal.

260 purine (A, G) incorporation and extensive -1 frameshifts, suggesting pairing of the inserted purine a

261 These results indicate that frameshifting takes place during the repetitive ribosoma

262 other candidate genes (four missense and one frameshift); targeted resequencing of PTCH1 in a second

263 ibosomes translating copA undergo programmed frameshifting, terminate translation in the -1 frame, an

264 One facet of this is frameshifting that often results in synthesis of a C-ter

265 he over-reading of stop codons via ribosomal frameshifting, the existence of an antizyme and an antiz

266 In many cases of productively utilized frameshifting, the proportion of ribosomes that frameshi

267 ion of cells with IL6 led to tetranucleotide frameshifts, the signature for EMAST.

268 1alpha-mediated splicing, which results in a frameshift to encode a protein with transcriptional acti

269 untington pathology, undergoes a sporadic +1 frameshift to generate from the CAG repeat a trans-frame

270 oviruses, utilizes a -1 programmed ribosomal frameshift to generate viral enzymes in the form of a Ga

271 ly of Pakistani origin revealed a homozygous frameshift variant (c.140delG [p.Gly47Valfs( *)3]) in ni

272 rent smoking in relation to the risk for CD (frameshift variant fs1007insC; rs5743293).

273 82 unrelated PFAPA patients and identified a frameshift variant in the CARD8 gene (CARD8-FS).

274 exon and consequently a transcript with this frameshift variant is not a canonical substrate for nons

275 .02 compared with PFAPA patients without the frameshift variant).

276 novel amyloidogenic fibrinogen Aalpha-chain frameshift variant, Phe521Leufs, causing a severe famili

277 lies, that is, 5 missense, 1 nonsense, and 1 frameshift variant.

278 Because of the uniform location of frameshift variants in DVL1-mediated Robinow syndrome an

279 individuals harboring heterozygous, de novo frameshift variants in DVL3, including two splice accept

280 report on 2 patients with de novo stop-loss frameshift variants in KIF5A resulting in a novel phenot

281 These families carry distinct frameshift variants in NEFH (neurofilament heavy), leadi

282 n and established that germline nonsense and frameshift variants in PALB2, but not in ATM or CHEK2, c

283 entified large numbers of rare stop-gain and frameshift variants in the human genome.

284 In most individuals, we identified biallelic frameshift variants in the molybdopterin binding (MPTb)

285 We sought to identify rare, CD-associated frameshift variants of high functional and statistical e

286 hy affected individuals with biallelic FLAD1 frameshift variants still harbor substantial FADS activi

287 y of FAD cofactors, the finding of biallelic frameshift variants was unexpected.

288 ense, 21 missense, one splice site, and five frameshift variants) that were potentially related to AL

289 We observed notable diversity, including frameshift variants, in aniA and fHbp and the presence o

290 The six variants identified include three frameshift variants, two missense variants, and a genomi

291 ers amyloidogenic properties to Aalpha-chain frameshift variants, yielding a previously unknown molec

292 In addition to confirming that clustered -1 frameshifting variants in DVL1 and DVL3 are the main con

293 exclusive with other loss-of-function (stop/frameshift) variants.

294 Because frameshifting was also prevalent in a polyamine auxotrop

295 tingly, during starvation, the initiation of frameshifting was independent of polyamine concentration

296 e -1 PRF strongly promote this activity, but frameshifting was significantly more efficient upon incl

297 Frameshifts were observed when an appropriate pyrimidine

298 proteins, by using a programmed -1 ribosomal frameshift which requires a slippery sequence and an imm

299 t the nascent peptide level to stimulate the frameshifting, without involving stalling detectable by

300 riants in YY1AP1, and homozygous nonsense or frameshift YY1AP1 variants were subsequently identified