ライフサイエンスコーパス: frameshift

1 four amino acids preceding the lysines, or a frameshift.

2 ubset (~8%) of the translating pool robustly frameshift.

3 bit significant robustness against +1 and -1 frameshifts.

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

5 rate RNA gaps, thereby causing translational frameshifts.

6 e how the m(1)G37 modification prevents mRNA frameshifting.

7 otifs significantly influences the levels of frameshifting.

8 egisters reminiscent of programmed ribosomal frameshifting.

9 tein sequences remain largely invariant upon frameshifting.

10 polypeptide chain that scales with observed frameshifting.

11 low down mRNA translocation and promote mRNA frameshifting.

12 sing programmed ribosome pausing or inducing frameshifting.

13 that RNA decay mechanisms involving upstream frameshift 1 (UPF1), including nonsense-mediated decay (

14 lar mechanism called programmed -1 ribosomal frameshift (-1 PRF) to control the relative expression o

15 Many viruses utilize programmed -1 ribosomal frameshifting (-1 PRF) to express additional proteins or

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

17 her consideration, including 21 nonsense, 28 frameshift, 13 splice-region, and 225 missense variants.

18 Programmed -1 ribosomal frameshifting (-1PRF) is a widely used translation recod

19 we identified novel protein-coding UPF2 (UP-Frameshift 2) variants in humans with NDD, including spe

20 The -2/-1 programmed ribosomal frameshifting (-2/-1 PRF) mechanism in porcine reproduct

21 the genome and analyze the in-frame (3n) and frameshift (3n + 1 and 3n + 2) mutations in the targeted

22 essential, and this selective elimination of frameshift (3n + 1 and 3n + 2) mutations of the gene ind

23 the cells would carry both in-frame (3n) and frameshift (3n + 1 and 3n + 2) mutations.

24 and 8 (CLN3(Deltaex7/8)), creating a reading frameshift(7,8).

25 Second, missense, nonsense, and frameshift alleles cause recessive multisystem disorders

26 d larval lethality, while heterozygotes with frameshift alleles survived to adulthood, suggesting a p

27 ed zebrafish mutants with novel missense and frameshift alleles: p.Ser129Phe, p.Ser129Cys (which repl

28 4 different novel variants (2 splice site, 2 frameshift and 10 missense changes) in GNB1 in 16 pediat

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

30 ation within the hmgA gene that results in a frameshift and early termination of translation of the h

31 d by exome or genome sequencing to carry one frameshift and four different homozygous non-synonymous

32 to express additional proteins or to produce frameshift and non-frameshift protein products at a fixe

33 Mono-allelic frameshift and nonsense variants in TET3 occur throughou

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

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

36 2_c.2263insA) in CCDC66 predicted to cause a frameshift and truncation (p.Val747SerfsTer8).

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

38 These data provide insight into retroviral frameshifting and could lead to alternative strategies t

39 ragenic SD-like sequences stimulate ribosome frameshifting and may also slow down ribosome movement a

40 ormational heterogeneity plays a key role in frameshifting and suggest that transitions between diffe

41 of 11 nucleotides also occurred, leading to frameshifts and premature stop codons.

42 SKAT combining all nonsense, frameshift, and missense loss-of-function variants revea

43 had a deletion or duplication resulting in a frameshift, and one had a canonical splice acceptor site

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

45 yses demonstrated the induction of ribosomal frameshifting, and the generation and presentation of ab

46 letions, balanced structural rearrangements, frameshifts, and nonsense variants are predicted to inac

47 on in the psaA gene was revealed, leading to frameshift at the 580 amino acid position.

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

49 nockout methods in cell lines have relied on frameshifts caused by stochastic insertion/deletion in a

50 e exome sequencing, we identified homozygous frameshift CCDC32 variants in three affected individuals

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

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

53 /tRNA pairs that suppress different nonsense/frameshift codons.

54 Fits to a bursty model of frameshifting constrain frameshifting kinetic rates and

55 that genetic elements supporting productive frameshifting could rapidly evolve de novo, even in esse

56 sy and Williams-Beuren syndrome identified a frameshifting de novo variant in a major GABA(A)R gene,

57 engineered into 1 allele and a 16 base pair frameshift deletion engineered into the second allele.

58 d misalignment reduced base substitution and frameshift deletion fidelities.

59 me sequencing, we identified a de novo KCNN2 frameshift deletion in a patient with learning disabilit

60 We rescue a rare ten-nucleotide frameshift deletion in CR1, a top Alzheimer's disease ge

61 One patient's resistant tumor demonstrated a frameshift deletion in interferon gamma receptor 1, whic

62 thogenic variants included missense changes, frameshift deletions and insertions in WFS1 and an exoni

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

64 Patient iPSC-derived neurons with a rare frameshift DISC1 (Disrupted-in-schizophrenia 1) mutation

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

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

67 Ribosomal frameshifting during the translation of RNA is implicate

68 ism to influence the efficiency of ribosomal frameshifting during translation of viral RNA, indicatin

69 that 1,N (6)-erA in DNA generates extensive frameshifts during TLS, which can lead to genomic instab

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

71 rch, that encircles the programmed ribosomal frameshifting element.

72 translation and suggest naturally occurring frameshift elements may be regulated by the abundance of

73 We identified tumor-specific frameshifts encoding multiple epitopes that originated f

74 Translational frameshift errors are often deleterious to the synthesis

75 frame maintenance on the ribosome to prevent frameshift errors.

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

77 ed that they were characterized by ribosomal frameshifting events.

78 eshifting RNA (~3 aa/s) and can continuously frameshift for more than four rounds of translation.

79 nherited misfolded secretory protein, mucin1-frameshifted, from an intracellular location in immortal

80 Frameshift (FS) indels are enriched in olfactory recepto

81 utophagy, which is truncated in cancers by a frameshift (FS) mutation and expressed as a shortened UV

82 -splicing of exons create highly immunogenic frameshift (FS) neoantigens in tumors.

83 s with the most recurrent mutation being the frameshift G659Vfs*41 with frequencies of ~5-8% in colon

84 We discovered a frameshifted gene in the VP1 region that expresses a mem

85 The mechanisms of frameshifting have been investigated in many systems, an

86 Epitopes derived from these shared frameshifts have high population occurrence rates, wide

87 Matching this criterion, a frameshift heterozygous deletion of CA (-/CA) at chromos

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

89 vitro, little is known about how single RNA frameshift in living systems.

90 ring translational stalling, which can alter frameshifting in both the stalled and trailing ribosomes

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

92 to polyploidy or gene amplification because frameshifts in all alleles can be difficult to generate

93 s accounted for two low-frequency mutations, frameshifts in genes encoding protein components of the

94 6 distinct genes generated by CRISPR-induced frameshifts in HAP1 cells.

95 Furthermore, mutations that cause frameshifts in muscle-specific isoforms result in congen

96 Frameshifts in protein coding sequences are widely perce

97 unction, predicted deleterious missense, and frameshift) in all three subcategories were significantl

98 ous pathogenic variants (seven missense, two frameshift) in CDH2 in nine individuals with a syndromic

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

100 Inherited frameshift indel mutations of human erythroid-specific i

101 , and rs72821893 in KRT25 (c.800G>A) and the frameshift indels rs37146475 in GPRC6A (c.2323-2324insT)

102 ng missense mutations, splice site variants, frameshift indels, and stop gain/lost.

103 f a premature termination codon (PTC) from a frameshift-inducing INDEL that elicits nonsense-mediated

104 l RNA panhandle duplex and HIV-1-1 ribosomal frameshift-inducing RNA hairpin, but not ssRNAs or DNAs,

105 ransfer (smFRET) experiments, we studied how frameshift-inducing stem-loops from E. coli dnaX mRNA an

106 t -1 PRF in SARS-CoV-2, suggesting that such frameshift inhibitors may be promising lead compounds to

107 comitant splicing mutation (c.70-1G>A) and a frameshift insertion (c.73_74insG, p.Ala25Glyfs*27).

108 Frameshift insertion/deletions (fs-indels) are an infreq

109 hogenicity and the functional effects of non-frameshifting insertion/deletion variants.

110 types of functional residues impacted by non-frameshifting insertion/deletion variation.

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

112 ince it is an essential driver gene and 4 bp frameshift insertions occur in the same hotspot in 30%-3

113 Among different types of variation, non-frameshifting insertions and deletions (indels) represen

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

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

116 elTAAG (p.Val296Glyfs(*)13), in exon 5; this frameshift introduces a stop codon in amino acid 308 of

117 Translational frameshifting involves the repositioning of ribosomes on

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

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

120 Frameshifting is typically stimulated by signals contain

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

122 to a bursty model of frameshifting constrain frameshifting kinetic rates and demonstrate how ribosoma

123 has uncovered many details about single RNA frameshifting kinetics in vitro, little is known about h

124 Our results suggest that frameshifting may be a powerful evolutionary mechanism f

125 ve mutations mediated by a gene-inactivating frameshift mechanism during passage of an attenuated VAC

126 d that an evolutionarily conserved ribosomal frameshifting mechanism is used by simarteriviruses and

127 cell labeling based on mononucleotide repeat frameshift (MORF) as a stochastic translational switch.

128 messages containing the IS3, dnaX, and prfB frameshift motifs significantly influences the levels of

129 erentially expressed genes (DEGs) in the two frameshift mutant lines and found many down-regulated DE

130 The two frameshift mutants displayed reduced photosynthesis effi

131 mutant with a single-codon deletion and two frameshift mutants of the ANT1 ortholog in the C4 millet

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

133 h genetically undefined CSA and identified a frameshift mutation and a rare promoter variant in HSCB

134 nalysis indicates a preexisting heterozygous frameshift mutation at codon 616 (N616fs*) in one of the

135 chromosome at the EYS locus, which carries a frameshift mutation causing blindness.

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

137 ts ascertained are siblings who had an early frameshift mutation in EXOSC5 and the p.Thr114Ile missen

138 ractivity, and ataxia, who carries a de novo frameshift mutation in KCNQ3 (KCNQ3-FS534), leading to t

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

140 ond family with 2 siblings with a homozygous frameshift mutation in MKL1.

141 We found a homozygous frameshift mutation in NOS2 encoding a truncated NOS2 pr

142 A frameshift mutation in pgp1 of our laboratory isolate of

143 characterized a mouse model knocked-in for a frameshift mutation in RYR1 exon 36 (p.Gln1970fsX16) tha

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

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

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

147 the two repressors, or to the selection of a frameshift mutation in the gene encoding the repressors

148 Mucin 1 kidney disease (MKD) results from a frameshift mutation in the MUC1 gene (MUC1-fs).

149 ed with whole exome sequencing (WES) a novel frameshift mutation in the SPART gene in 2 brothers pres

150 ats-associated protein 9 to introduce a Bcor frameshift mutation into NP23 hematopoietic stem and pro

151 SK current; thereby confirming that only the frameshift mutation is associated with loss of function

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

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

154 t formally assess the association of the CR1 frameshift mutation with Alzheimer's disease due to insu

155 nel implicated in migraine: TRESK-MT, a 2-bp frameshift mutation, and TRESK-C110R.

156 Here we report and characterize a +1-nt frameshift mutation, centrally located in rpoB, an essen

157 amming, we used CRISPR-Cas9 to produce a new frameshift mutation, GR(369-), which eliminates all pote

158 4.0 x 10(-12), odds ratio (OR) = 16.7) and a frameshift mutation, rs532464664 (p.Val330Glyfs*106), in

159 Through a 1-nt frameshift mutation, these two parts formed a single rea

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

161 Here, we identify a new mechanism, termed frameshift mutation-induced alternative translation init

162 ene of the plasmid used contained a proximal frameshift mutation.

163 lls from schizophrenia patients with a DISC1 frameshift mutation.

164 This individual carrying the RYR1 frameshifting mutation complained of mild muscle weaknes

165 ith neurodegenerative disease and homozygous frameshift mutations (Asp517Metfs*19, Ser126Metfs*8, and

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

167 treatment and prevention of tumors harboring frameshift mutations and neoantigenic peptides as a resu

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

169 Inactivating frameshift mutations associated with the 7C HT in glpK p

170 e with pleiotropic effects in human, in that frameshift mutations cause a severe multi-system disorde

171 from single amino acid (aa) substitutions to frameshift mutations causing premature stop codons, and

172 revealed that 2347 nonsynonymous SNPs and 51 frameshift mutations could differentiate the salt tolera

173 Several frameshift mutations have been reported in rpoB in rifam

174 ense mutations can drive tumor immunity, but frameshift mutations have the potential to create far gr

175 rance in M. tuberculosis caused by transient frameshift mutations in a homopolymeric tract (HT) of 7

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

177 Calreticulin (CALR) +1 frameshift mutations in exon 9 are prevalent in myelopro

178 hout nephropathy, associated with homozygous frameshift mutations in FAT1.

179 we identified four homozygous truncation or frameshift mutations in MESD.

180 tumor-specific antigens derived from shared frameshift mutations in MSI-H cancer and Lynch syndrome

181 Here, we identify biallelic missense and frameshift mutations in NARS1 in seven patients from thr

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

183 This work shows that frameshift mutations in rpoB can be a mutational mechani

184 These reversible frameshift mutations in the 7C HT of M. tuberculosis glp

185 atal X-linked disorder caused by nonsense or frameshift mutations in the DMD gene.

186 geria syndrome cells and mice by introducing frameshift mutations in the LMNA gene.

187 Using CRISPR-Cas9, we introduced frameshift mutations in these risk genes in pools, withi

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

189 Recently, germline frameshift mutations involving the C-terminal tail of HI

190 er tumors characterized by PIK3CA C-terminal frameshift mutations may derive benefit from p110alpha-s

191 nia virus, rapid acquisition of inactivating frameshift mutations occurred.

192 origin (pro-B1 ALL), accompanied by somatic frameshift mutations of the BCL6 interacting corepressor

193 The capacity to make precisely directed frameshift mutations should greatly accelerate the molec

194 Here we show that disease-causing frameshift mutations that result from microduplications

195 editing can be used to efficiently introduce frameshift mutations to inactivate mutant genes.

196 d repair outcome signatures enriched towards frameshift mutations, allowing maximization of CRISPR/Ca

197 defects caused by APOBEC-mediated mutations, frameshift mutations, and inactivating point mutations.

198 We also identified two UBAP1 frameshift mutations, c.324_325delCA (p.H108Qfs*10) and

199 ignment, as virtually all RNF43 nonsense and frameshift mutations, including those in the C-terminal

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

201 tions, which has implications for correcting frameshift mutations.

202 ently engineered through CRISPR-Cas9-induced frameshift mutations.

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

204 ccurs in the allele that does not harbor the frameshift N616fs* mutation.

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

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

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

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

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

210 ddition, we determined that bL9 can suppress frameshifting of its host ribosome, likely by regulating

211 These frameshifts often create cationic carboxy-terminus resid

212 he absence of m(1)G37 in tRNA(Pro) causes +1 frameshifting on polynucleotide, slippery codons.

213 is a fusion protein encoded in part by a +1 frameshifted open reading frame (X-ORF) in segment 3.

214 live-cell single RNA translation dynamics in frameshifted open reading frames.

215 astating for the encoded protein, inducing a frameshift or in-frame deletion/insertion of multiple re

216 tion of the F protein requires translational frameshift or non-standard translation initiation.

217 ants were present, the majority of which are frameshift or nonsense mutations.

218 147 of these exons, many of which introduced frameshifts or encoded premature stop codons.

219 r identifying interrupted genes that contain frameshifts or introns.

220 t protein with altered activity or introduce frameshifts or stop codons or disrupt regulatory element

221 h a bioinformatic pipeline to detect indels, frameshifts, or hypermutations that would render them de

222 Also, a c.191dupA frameshift (p.Asn64LysfsTer15), the first described and

223 We report biallelic missense and frameshift pathogenic variants in the gene encoding huma

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

225 coding genes can result in the synthesis of frameshift peptides (FSP).

226 We further confirmed the immunogenicity of frameshift peptides in T cell stimulation experiments us

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

228 Programmed ribosomal frameshifting (PRF) is a conserved translational recodin

229 Programmed ribosomal frameshifting (PRF) is a mechanism used by arteriviruses

230 n of reads flanking the programmed ribosomal frameshifting (PRF) signal at the genomic RNA ORF1a/ORF1

231 l mechanisms, including programmed ribosomal frameshifting (PRF), which facilitates the production of

232 s in mRNA can stimulate programmed ribosomal frameshifting (PRF).

233 the translating ribosome interferes with the frameshifting process.

234 hereby enabling the ribosome to generate two frameshift products that are implicated in viral immune

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

236 al proteins or to produce frameshift and non-frameshift protein products at a fixed stoichiometric ra

237 o Decay (NGD) or result in the production of frameshifted proteins.

238 dinucleotide usage, RNA structure around the frameshift region) in comparison with other members of t

239 bined with RNA-binding assays and cell-based frameshifting reporter assays reveal a number of key res

240 tide in its anticodon loop that undergoes +1 frameshifting, reveal that m(1)G37 destabilizes interact

241 es the breast cancer risk of two high-impact frameshift risk variants.

242 g RNA are translated at similar rates as non-frameshifting RNA (~3 aa/s) and can continuously framesh

243 Frameshifting RNA are translated at similar rates as non

244 lements located at the 5' end, the ribosomal frameshift segment and the 3'-untranslated region (3'-UT

245 ng this technology to RNA encoding the HIV-1 frameshift sequence reveals a small subset (~8%) of the

246 e ribosome during PRF, we found that the WNV frameshift signal formed an unusually large number of di

247 n, we studied the structural dynamics of the frameshift signal from West Nile virus (WNV), which stim

248 between the different conformers of the WNV frameshift signal was maximal in the range of forces app

249 atively analyzed the SARS-CoV and SARS-CoV-2 frameshift signals.

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

251 tein in vitro, it could not be overridden by frameshift site mutations that block PA-X expression and

252 l PA-X expression, either by mutation of the frameshift site or by truncating the X open reading fram

253 sed premature translation termination at the frameshifting site.

254 ve TSAs are antigens derived from mutational frameshifts, splice variants, gene fusions, endogenous r

255 ignificance and optimality demonstrates that frameshift stability is embedded in the structure of the

256 ic jams contribute to the persistence of the frameshifting state.

257 sent an extensive mutational analysis of the frameshift stimulators (mRNA signals and 2A protein) ana

258 reveal a very high rate (5%) of spontaneous frameshift suppression occurring on a heptanucleotide se

259 Similar analyses of frameshift suppressor tRNA(SufA6), a tRNACGGPro derivati

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

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

262 The mutation in one allele causes a frameshift that produces a longer but highly unstable pr

263 Notably these include frameshifts that can activate immune responses and provi

264 3 variants caused exon skipping resulting in frameshifts that lead to premature stop codons.

265 utations included a partial gene deletion, a frameshift, three nonsense mutations, a single amino aci

266 RNAs) contain motifs that promote deliberate frameshifting to regulate production of the encoded prot

267 tes skipping of CD58 exon 3 and results in a frameshifted transcript, indicating that the Alu may be

268 icate polyA runs cause ribosome stalling and frameshifting, triggering mRNA surveillance pathways and

269 Indeed, frameshifts typically lead to markedly altered protein s

270 The second patient was homozygous for a frameshift variant (NM_001348097.1:c.1294delA, p.[Thr432

271 ome sequencing, we identified a heterozygous frameshift variant (p.Ser117HisfsTer10) in F3, the gene

272 heterozygous variant carrying the identical frameshift variant and a large deletion (c.867_(*)343+12

273 the Nfasc155 isoform as a consequence of the frameshift variant and a significant reduction of expres

274 ic arrest and identified the same homozygous frameshift variant c.676dup (p.Trp226LeufsTer4) in M1AP,

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

276 the individuals is an 11-year-old boy with a frameshift variant in exon 7 of NAA10, who presents most

277 82 unrelated PFAPA patients and identified a frameshift variant in the CARD8 gene (CARD8-FS).

278 hole-exome sequencing, we identified a novel frameshift variant in the ubiquitously expressed transcr

279 exome sequencing revealed a novel homozygous frameshift variant p.Val242GlufsTer52 in the TSPY-like 1

280 t disease mechanism, and report a novel uORF frameshift variant upstream of NF2 in neurofibromatosis.

281 .02 compared with PFAPA patients without the frameshift variant).

282 One individual carried a frameshift variant, another one carried a homozygous sto

283 CD subject identified an apparent homozygous frameshift variant, c.887_890delTAAG (p.Val296Glyfs(*)13

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

285 The two frameshift variants (c.2563_2564delCT [p.Leu855Valfs(*)4

286 function CASR variants (6 different nonsense/frameshift variants and 12 different missense variants)

287 3, underlines the clustering of nonsense and frameshift variants causing AI in the absence of junctio

288 tile males revealed three heterozygous SYCP2 frameshift variants in additional subjects with cryptozo

289 iduals with ID, we identified two bi-allelic frameshift variants in METTL5, c.344_345delGA (p.Arg115A

290 Multiple novel missense and frameshift variants in MFRP and PRSS56 were identified.

291 We report here six individuals with de novo frameshift variants in NOVA2 affected with a severe neur

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

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

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

295 hobicity profiles of the original and the +1-frameshifted variants greater than 0.7, despite an avera

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

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

298 Novel frameshift variation in GPRC6A (c.2323-2324insT) was ide

299 along mRNA and stimulate programmed ribosome frameshifting via mechanisms that are not well understoo

300 A previously reported WDR72 frameshift was also observed [c.1467_1468delAT/p.(Val491