ライフサイエンスコーパス: mutation

1 nrichment of the activating V777L ERBB2/HER2 mutation.

2 fficient to reveal the underlying pathogenic mutation.

3 tions are disrupted by deafness-causing Cib2 mutations.

4 imize the development of resistance by viral mutations.

5 with echinocandin resistance-associated FKS2 mutations.

6 h inhibition in tumour cells harbouring KRAS mutations.

7 erited, incurable diseases caused by similar mutations.

8 tionary trade-offs created by the resistance mutations.

9 However, not all patients with AD have FLG mutations.

10 model of frontotemporal dementia due to GRN mutations.

11 itive patients were published to have double mutations.

12 nd is commonly comutated with oncogenic KRAS mutations.

13 y defects are associated with ASD-associated mutations.

14 ITX2 or FOXC1 and aniridia is caused by PAX6 mutations.

15 for applying CRISPR-Cas9 to correct genetic mutations.

16 We report change-of-function SRSF2 mutations.

17 etic renal diseases bearing patient-specific mutations.

18 The corresponding ABHD5 mutations (ABHD5 R299N and ABHD5 G328S) selectively disr

19 The constitutively active Nlrp3(A350V) mutation abolished the protective effect of aPC, demonst

20 .18; P = .273) or whose tumors did have KRAS mutations (adjusted RR, 0.59; 95% CI 0.35-1.03; P = .062

21 r patients whose tumors did not contain KRAS mutations (adjusted RR, 0.81; 95% CI, 0.56-1.18; P = .27

22 ucolipidosis type IV, and a gain-of-function mutation (Ala419Pro) in TRPML3 gives rise to the varitin

23 TERT promoter mutations alone did not predict adverse outcomes (P = 0.

24 arison of the distribution of the pathogenic mutations along the length of DYRK1A with that of natura

25 Surprisingly, these mutations also increased the DNA unwinding rate, suggest

26 and is particularly active in lymphomas with mutations altering the BCR subunit CD79B and MYD88.

27 Patients and Methods Mutation analyses (wild-type [WT] and mutant) for TP53,

28 Mutation and reassortment of highly pathogenic avian inf

29 ide a mechanistic link between EPHB receptor mutations and metastasis in colorectal cancer.

30 activation and how it is affected by select mutations and other factors.

31 and provide key insights into beneficial LoF mutations and potential new treatments.

32 e in a mesenchymal tumor, we identified PTEN mutations and reduced expression of genes encoding neoan

33 two independent the proportion of singleton mutations and the dI/dS ratio, where dI is the number of

34 ntified and studied three novel patient XIAP mutations and used this system to characterize NOD2 and

35 with a glycosylation-preventing GluN1-N440Q mutation, and demonstrate an increase in the glycine EC5

36 as to define transgene architecture, somatic mutations, and structural alterations.

37 complexity strongly buffers fitness costs of mutations, and that anabolic rather than catabolic pathw

38 This mutation- and single nucleotide polymorphism-independent

39 e transcriptase inhibitor (NNRTI) resistance mutations are associated with an increased risk of virol

40 Susceptibility testing indicated that mmpT5 mutations are associated with modest 2- to 8-fold increa

41 Maize opaque2 (o2) mutations are beneficial for endosperm nutritional quali

42 lassifier for predicting the likelihood that mutations are cancer drivers.

43 a in vivo, indicating that BRAF-inactivating mutations are initiating events in lung oncogenesis.

44 DNA mutations are nonrandom, and mutations at specific codon

45 The pathogenic HIST1H1E mutations are predicted to result in a product that is l

46 Oncogenic RAS mutations are present in 15-30% of thyroid carcinomas.

47 The remaining mutations are probably weakly dominant negative or their

48 thritis and decreased height, but the causal mutations are still unknown.

49 Ras mutations associated with intellectual disability abolis

50 ed AID chromatin association and CSR but not mutation at Myc.

51 d mismatch repair (MMR) pathways to generate mutations at G-C and A-T base pairs, respectively.

52 ysis indicates that the 3 disease-associated mutations at positions 206, 281, and 284 of the STING pr

53 es cells to a number of chemical agents, and mutations at predicted channel-facing positions modulate

54 DNA mutations are nonrandom, and mutations at specific codons are associated with specifi

55 ossible to identify multiple disease-related mutations, but there is currently no systematic framewor

56 ly described and their corresponding genetic mutations can now be readily detected.

57 ndon-based cohort of 37 participants (23 HTT mutation carriers and 14 controls), we further assessed

58 luded presymptomatic and symptomatic HCHWA-D mutation carriers diagnosed through genetic testing and

59 Pathogenic mutations cause a loss of function of the encoded protei

60 Together, these results indicate that SGPL1 mutations cause a syndromic form of SRNS.

61 and free energy calculations, the Gly1629Glu mutation causes structural perturbation in the A2 domain

62 blockers are in clinical trials, but escape mutations challenge their potential.

63 Some missense mutations changed essential residues conserved among Sch

64 e acquisition of clonal hematopoiesis-driver mutations (CHDMs) occurs with normal aging and these mut

65 cells exposed to both perturbations-drug and mutation-compared with cells exposed to either alone.

66 We show that the Q311R mutation confers enhanced FcRn interaction in vitro, and

67 sight into the molecular basis for how these mutations contribute to epileptic encephalopathies, we c

68 Purpose Deleterious germline mutations contribute to pancreatic cancer susceptibility

69 In vivo, promoter responses to TAF mutations correlate with the level of downstream, rather

70 thylation, alone or concurrent with promoter mutations, correlated with reduced recurrence-free survi

71 d five de novo heterozygous loss of function mutations/deletions in the PBX homeobox 1 gene (PBX1), a

72 d clinicians for interrogating mechanisms of mutation-dependent drug response, which will have a sign

73 n DNA sequencing reactions and in situ point mutation detection assays in preserved tumour samples ca

74 In particular, the VWD type 2A Gly1629Glu mutation drastically accelerates the proteolytic cleavag

75 ke APOBEC3A and APOBEC3B have emerged as key mutation drivers in cancer.

76 by adding both disulfide and cavity-filling mutations (DS-Cav1), and we also modified RSV F codon us

77 rated that Hsp90 increased both A3G cytosine mutation efficiency on HBV DNA and total HBV mutation fr

78 SEFL mutations eliminated off-target antibody-dependent monoc

79 a mice, which carry a heterozygous C96Y Ins2 mutation, exhibit elevated PLIN2 expression and ER stres

80 ize of the largest lesion (smaller), and KIT mutation (exon 11) were significant prognostic factors f

81 This mutation (F145I) was associated with dihydroartemisinin-

82 y of iPSC-derived cortical neurons with SGCE mutations for myoclonus-dystonia research and, in more g

83 mutation efficiency on HBV DNA and total HBV mutation frequency.

84 Strikingly, a compensatory FANCA somatic mutation from an "experiment of nature" in monozygotic t

85 is heterozygous for a disease-causing point mutation (Gfap(R236H)(/+)) (and thus expresses both wild

86 Mice with a missense mutation (H268Q) in Jag1 (Jag1(+/Ndr) mice) were outbred

87 The DYT4 mutation had no impact on microtubule dynamics suggestin

88 fferent medical cohort, patients with double mutation had worse 3-year OS of 18%, compared with 35% w

89 Unexpectedly, the switch I mutations had only modest effects on GTP binding and on

90 Moreover, the effect of MED12 mutations has cell-type specificity on IEG expression.

91 Less common non-BRCA mutations have also been identified and contribute to he

92 s (CHDMs) occurs with normal aging and these mutations have been detected in more than 10% of individ

93 ave strong genetic bases and disease-causing mutations have been discovered in several genes.

94 oskeleton and slit diaphragm dynamics, MAGI2 mutations have not been described in human SRNS.

95 o, and Abs harboring either the Q311R or TLQ mutations have serum half-lives as long as wild-type hum

96 fficulty of rationally predicting beneficial mutations, here we used a more comprehensive mutagenesis

97 rly, in the subset with KIT exon 11 deletion mutations, higher-than-the-median mitotic counts were as

98 Within specific mutated genes, frequency, mutation hotspot residues, in silico predictions, and fu

99 d a novel murine allele by inserting a point mutation identified in a patient with NSCL/P.

100 Computational prediction of mutation impacts on protein stability offers a fast, eco

101 Mutations impairing flagellar synthesis are inferred to

102 The structures reveal that the S531L mutation imparts subtle if any structural or functional

103 We identified a causal mutation in 1 of 14 genes in 50% (353/710).

104 cribe a family with Liddle syndrome due to a mutation in alphaENaC.

105 The serum of a patient with a V262F missense mutation in Eda, which caused a milder form of X-linked

106 rogenitors exhibit unique sensitivities to a mutation in fgf8a Our data highlight novel aspects of SH

107 (VGSC) gene did not detect the common L1014F mutation in field collected An. funestus across Africa.

108 Resistance associated with the Tyr181Cys mutation in HIV-1 RT has been a key roadblock in the dis

109 no evidence that ERG is an effector of SPOP mutation in human prostate cancer or mouse models.

110 A disease-causing mutation in human STN1 engenders a selective defect in P

111 We identified a novel splice mutation in IKBKG (c.518+2T>G, resulting in an in-frame

112 to how fish tolerate what is an early lethal mutation in mammals could facilitate improvement of diag

113 ize (Zea mays) is triggered by a frame-shift mutation in MATRILINEAL (MTL), a pollen-specific phospho

114 Pnldc1 mutation in mice inhibits piwi-interacting RNA trimming

115 Whole exome sequencing identified a single mutation in SLC30A9 within this locus, segregating as ex

116 A spinocerebellar ataxia type 5 (SCA5) L253P mutation in the actin-binding domain (ABD) of beta-III-s

117 re the dynamical changes induced by the R61T mutation in the ApoE4 native and misfolded states.

118 with the curly leaf (clf) allele, carrying a mutation in the catalytic core of PRC2, strongly enhance

119 , we provide the first characterization of a mutation in the gene encoding CaMKIIalpha linked to a sp

120 ) of rHPIV1 bearing a stabilized attenuating mutation in the P/C gene (C(Delta170)).

121 cessive allele is due to a splice donor site mutation in the scavenger receptor B1 (SCARB1; also know

122 i, by creating a temperature-sensitive point mutation in the sex-determination gene, transformer-2 (t

123 signaling, we generated knockin mice with a mutation in the TR DNA-binding domain that abrogates bin

124 This study screened for mutations in 322 hematology patients classified accordin

125 We identified pathogenic mutations in 36 of 204 (17.6%) patients.

126 Mutations in a small number of genes have been reported

127 Mutations in ATP7B cause the potentially fatal hepatoneu

128 disorder of copper (Cu) misbalance caused by mutations in ATP7B.

129 However, the significance of LKB1 mutations in cervical cancer initiation and progress has

130 The role of germline mutations in children and adults with hematologic malign

131 el blockers and the functional properties of mutations in children with SCN2A-related epilepsy.

132 For somatic point mutations in coding and non-coding regions of the genome

133 city, we screened a collection of C. elegans mutations in dopamine-related genes (n = 45) for changes

134 Insertion mutations in EGFR and HER2 both occur at analogous posit

135 a crucial function in renal physiology, with mutations in either protein causing autosomal dominant p

136 ritable connective tissue disorder caused by mutations in FBN1, which encodes the extracellular matri

137 es are linked to heterozygosity for missense mutations in five ARS genes, which points to a shared me

138 Internal tandem duplication mutations in FLT3 are common in acute myeloid leukaemia

139 Our data suggest that recessive mutations in FOXI1 can explain the disease in a subset o

140 The three stage 4 tumors contained mutations in genes encoding protein products that regula

141 Point mutations in genes encoding sarcomeric proteins are the

142 part because of a poor understanding of how mutations in genes such as GRN contribute to disease pat

143 Mutations in genes that encode the complement alternativ

144 In contrast, loss-of-function mutations in GLI1 have remained elusive, maintaining eni

145 otein pathway genes induced loss of function mutations in human and mouse cell lines measured by FLAE

146 Mutations in human PKP2 associate with a life-threatenin

147 Mutations in human SF3b1 have been linked to many diseas

148 Gain-of-function mutations in iRHOM2 underlie Tylosis with oesophageal ca

149 We identified an N-TIMP2 mutant, with five mutations in its interface, that has an MMP-14 inhibitio

150 R-ABL1(-) MPNs, which are largely defined by mutations in JAK2, CALR, or MPL In the B-cell lymphomas,

151 d KOW5 of Spt5 is essential for pausing, and mutations in KOW5 specifically shift the location of the

152 Activating mutations in KRAS are the hallmark genetic alterations i

153 lated patients and families with DDD in whom mutations in KRT5, POFUT1, and POGLUT1 have been exclude

154 Mutations in leucine-rich repeat kinase 2 (LRRK2) and al

155 Mutations in LRRK2 represent the most common known genet

156 In summary, somatic mutations in MAP2K1 are a common cause of extracranial A

157 Direct Coupling Analysis (DCA) of correlated mutations in multiple sequence alignments (MSAs).

158 ella Typhimurium because of loss-of-function mutations in Nramp1 (SLC11A1), a phagosomal membrane pro

159 Loss-of-function mutations in ORGANELLE RNA RECOGNITION MOTIF PROTEIN6 (O

160 Double mutations in patients with hypertrophic cardiomyopathy a

161 Available data suggests that double mutations in patients with hypertrophic cardiomyopathy a

162 Axenfeld-Rieger syndrome is caused by mutations in PITX2 or FOXC1 and aniridia is caused by PA

163 may have increased its adaptability, as many mutations in protein-coding genes occurred during the ou

164 we have identified 6 heterozygous truncating mutations in PSENEN, encoding presenilin enhancer protei

165 ing to determine the propensity of acquiring mutations in response to vaccine or treatment with one o

166 RP is frequently caused by mutations in Rhodopsin; in some animal models, RD is exa

167 IDH2 allele burden, and co-occurring somatic mutations in sequential patient samples from the clinica

168 nt studies to find unique, treatment induced mutations in sets of isogenic samples with very low fals

169 We identified BRPF1 deletions or point mutations in six additional individuals with a similar p

170 er, our data strongly suggest that recessive mutations in SLC45A1 cause ID and epilepsy.

171 nding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facio

172 SOX family protein in pancreatic islets, and mutations in Sox4 are associated with an increased risk

173 identified second-site suppressors of lethal mutations in SP.

174 The available data suggest that mutations in TBK1 that cause a 50% reduction of TBK1 pro

175 Probands with DNMs or rare inherited mutations in the 67 candidate genes exhibited significan

176 Analysis of HIV-1 isolates bearing defined mutations in the capsid protein revealed differences in

177 iratory disease.Cystic fibrosis is caused by mutations in the CFTR chloride channel, leading to reduc

178 interpreting the functional significance of mutations in the CTLA-4 pathway identified by gene-seque

179 Mutations in the Cystic Fibrosis Transmembrane Conductan

180 We identified single-point mutations in the Fc domain (e.g., E345K or E430G) enhanc

181 of the signaling network by which activating mutations in the FGF receptor inhibit bone growth.

182 debilitating neurological disorder caused by mutations in the gene encoding the transcription factor

183 primary cause of KOS is autosomal recessive mutations in the gene UBE3B However, to date, there are

184 he UCE, in a reporter minigene or via random mutations in the genomic context using CRISPR/Cas9, chan

185 sease (AxD), which is caused by heterozygous mutations in the GFAP gene, which is the gene that encod

186 Mutations in the hetero-tetramer interface and the activ

187 but devastating childhood disease caused by mutations in the IDS gene encoding iduronate-2-sulfatase

188 Mutations in the isocitrate dehydrogenase genes IDH1 and

189 Loss-of-function mutations in the MCOLN1 gene, which encodes TRPML1, caus

190 as found in the ExAC database, confirms that mutations in the N-terminal end of the kinase domain are

191 In humans, mutations in the NMD factor gene, UPF3B, cause intellect

192 n the Tubb4a (beta-tubulin 4A) gene, because mutations in the TUBB4A gene have been described in pati

193 Mutations in the X-linked gene Protocadherin-19 (Pcdh19)

194 Mutations in this gene cause childhood blindness, in whi

195 vast majority of PCH cases are explained by mutations in TSEN54, which encodes a subunit of the tRNA

196 Recessive mutations in WD repeat domain 62 (WDR62) cause microceph

197 Thus, precisely how these mutations inactivate BAP1 is unknown.

198 These mutations included five de novo heterozygous loss of fun

199 Our study shows that different gene mutations induce DCM via diverse cellular pathways.

200 ge the phenotype of a common nevus with BRAF mutation into that of DPN, with increased pigmentation,

201 ted that AI in mice carrying the Amelxp.Y64H mutation is a proteinopathy.

202 Suppression by the mps mutation is specific to Deltalsr2; it does not rescue th

203 feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alp

204 ne containing various PTC-inducing non-sense mutations is able to generate and present epitopes downs

205 lysis of chromosomal copy number changes and mutations is useful in distinguishing multiple primary M

206 our understanding of early embryonic somatic mutations is very limited.

207 The whole-genome mutation landscape of melanoma reveals diverse carcinoge

208 How RASA1 mutations lead to the LV leakage defects that occur in C

209 We hypothesized that an elevated mutation load in combination with T cell clonal dominanc

210 Defining mutation load in individual pancreatic cancers and the o

211 based on F-actin-tropomyosin models show the mutation localizes tropomyosin in a blocked-state positi

212 the PL-2 epitope due to a serine-to-proline mutation, locking the loop in a conformation that steric

213 However, mutations made within the predicted transporter substrat

214 n structural analysis revealed that Phe10Leu mutation may decrease the structural stability of the TB

215 g iRegNet3D, we find that disease-associated mutations may perturb the regulatory network through div

216 uth America; however, ubiquitous deleterious mutations may severely decrease its fitness.

217 For 11 out of these 12, NHI mutation mechanisms have been reported.

218 m cell (hESC) line carrying the common T158M mutation (MECP2(T158M/T158M) ), hESC line expressing no

219 ing a conditional allele for Braf(V600E) , a mutation observed in clinical cases of GIST, we observed

220 Conclusion (Non-V600) BRAF mutations occur in approximately 2.2% of patients with m

221 No single mutation occurred in all four tumors or in all stage 4 t

222 ating that a large fraction of these de novo mutations occurred during early germ cell development.

223 e this, recent work in Drosophila shows that mutation of a single miRNA locus (miR-iab4/iab8) affects

224 Moreover, we found that mutation of any component of the T1SS system abrogated t

225 In vitro binding studies showed that whereas mutation of Arg36 (R36W) or Arg35 (R35H/L) completely ab

226 5 (R35H/L) completely abolished DNA binding, mutation of Arg60 (R60Q) significantly reduced DNA bindi

227 Alanine scanning mutation of Epep revealed residues critical for Tbx3, Kl

228 ose to the HMBPP diphosphate, whereas double mutation of nonconserved residues (Ser/Thr(296/297)) may

229 Mutation of NPF6.4 Tyr-370 to His (Y370H) resulted in sa

230 ET) biosensor, we show that a phosphomimetic mutation of Ser-561 promotes an intramolecular interacti

231 Here, we show that mutation of the mouse orthologue of GPSM2 affects actin-

232 e activity under HG, which was reduced after mutation of the Sp-1-binding site.

233 Moreover, mutation of this residue blocks PKD2's interaction with

234 Importantly, a helix-disrupting mutation of W50R into residues 44-65 restored the immuno

235 Colon cancers frequently bear inactivating mutations of the adenomatous polyposis coli (APC) gene,

236 Mutations of the beta-catenin pathway change the phenoty

237 the immunophenotype, morphology, and genetic mutations of the corresponding patient.

238 and cystic fibrosis (CF), which is caused by mutations of the cystic fibrosis transmembrane conductan

239 el for mCRPC were tested for somatic BRCA1/2 mutations of the primary tumor.

240 imary end point was the incidence of somatic mutations of the RAS, BRAF, and EGFR genes and associati

241 der that is caused by inherited inactivating mutations of the RASA1 gene, which encodes p120 RasGAP (

242 Therefore, the point mutation on NFU1 impairs downstream cluster trafficking

243 e reported effects of XLP-2 and VEO-IBD XIAP mutations on cell death have been inconsistent.

244 We have identified mutations on the capsid surface and in internal networks

245 phalopathies, we compared the effects of the mutations on the properties of recombinant alpha1beta2ga

246 In tissue, we assessed the effects of the mutations on the vulnerability to unidirectional conduct

247 ecurrent ovarian carcinoma harbouring a BRCA mutation or high percentage of genome-wide loss of heter

248 mation, whereas a non-phosphorylatable S561A mutation or inhibition of Par1 kinase activity decreases

249 eous antibody-drug conjugates (ADCs) rely on mutations or inefficient conjugation chemistries.

250 rs - whether caused by rare highly penetrant mutations or sporadic forms - and holds promise as a bio

251 pulations evolve independently, accumulating mutations over time that make them incompatible with one

252 OS of 18%, compared with 35% without double mutation (P = 0.023).

253 Myeloid mutation panels have identified somatic variants in pati

254 (GBM) are defined using gene expression and mutation profiles, we identify a unique subpopulation ba

255 lts show that the populations with increased mutation rate, and capable of sexual recombination, outp

256 Interestingly, we found that these mutations reduced surface expression of full-length G1 b

257 t a negative family history and no sarcomere mutations represent a nonfamilial subgroup of HCM.

258 n to rat chromosome 9, we tested whether the mutation resided within the Tubb4a (beta-tubulin 4A) gen

259 it is not fully understood how distinct GJB2 mutations result in hearing loss alone or in skin pathol

260 Several of these mutations result in MEK1 constitutive activity, but how

261 The functional analyses showed that the mutation results in an aberrant activation of STAT3, lea

262 ersus WT NMR analyses to show that the S672R mutation results in extensive perturbations of the dynam

263 Inheritance pattern and causative mutation; retinal function as assessed by VA, visual fie

264 agonists in adult-type mouse AChRs having a mutation(s) at the transmitter-binding sites.

265 ee resistant clones, all harbouring the same mutation (Ser301Phe) in HA that abolishes 46B8 binding t

266 tation, the only recessive AD-associated APP mutation, shifted the preferential beta-cleavage site of

267 nclusion formation in Drosophila; while most mutations showed similar behaviors in yeast, in vitro, a

268 pic follow-up in five individuals with GRIA1 mutations shows evidence of specific learning disabiliti

269 ns to elucidate the FH heterogeneity and the mutation spectrum in the Iranian population.

270 relationships between variation produced by mutation, standing genetic variation, and the rate of ev

271 The association between imaging features and mutation status (e.g., EGFR-positive [EGFR+] vs. EGFR-ne

272 atment according to BRCA1 and BRCA2 germline mutation status.

273 Somatic mutations such as CARD11 may have an impact on response

274 stic fibrosis transmembrane regulator (CFTR) mutation that causes cystic fibrosis.

275 cially concerning for positively charged CDR mutations that are linked to antibody polyspecificity.

276 Rather, mutations that disrupted the pTRS1 interaction with PKR

277 oped that could predict solubility-enhancing mutations that maintain wild-type fitness with an accura

278 ed analyses of spontaneously arising somatic mutations that recover CD247, and thus TCR expression, i

279 f the pH1N1 NS1 protein to naturally acquire mutations that restore this function.

280 lament states, we successfully predict point mutations that shift the equilibrium between those two s

281 We discovered that A673V mutation, the only recessive AD-associated APP mutation,

282 Based on previous localization of the taiep mutation to rat chromosome 9, we tested whether the muta

283 with strong silencing efficacy; introducing mutations to disrupt either SL attenuated miR159 efficac

284 59 efficacy, while introducing complementary mutations to restore the SLs, but not the sequence, rest

285 mice (corresponding to the human BRAF(D594A) mutation) triggers lung adenocarcinoma in vivo, indicati

286 nt stem cell (iPSC) line carrying the V247fs mutation (V247fs-WT and V247fs-MT), and iPSC line in whi

287 sis and the adverse generation of off-target mutations vary greatly between different organisms.

288 Importantly, this mutation was able to sustain 15% of wild-type transport

289 The mutation was confirmed as de novo in three of the cases,

290 247fs-MT), and iPSC line in which the V247fs mutation was corrected by CRISPR/Cas9-based genome editi

291 A homozygous nonsense mutation was identified in exon 1 of the TYR gene, with

292 association of cetuximab efficacy with these mutations was investigated by using Fisher test.

293 No evidence of K-ras mutations was observed.

294 Nesprin-1 mutations were also associated with augmented activation

295 Mutations were also found in rarely reported genes inclu

296 Recently, DES mutations were described in patients with inherited arrh

297 No mutations were detected in the consensus sequences of vi

298 d 9.1% (29 of 317) of SBA samples, but V600E mutations were much less common in SBA, representing onl

299 unique evolutionary patterns, we create LCR mutations, which systematically tune its biophysical pro

300 Amino acid substitution mutations within a PMS2 C-terminal (721)QRLIAP motif att