ライフサイエンスコーパス: missense

1 ar splice regions) and five in controls (all missense).

2 in IDH3A in 4 unrelated families, that is, 5 missense, 1 nonsense, and 1 frameshift variant.

3 A missense allele in BRCT domain 4 of Brc1 disrupts bindin

4 pin1 mutants, although both can complement a missense allele.

5 ed retention of OCA proteins harboring novel missense alleles in the endoplasmic reticulum (ER) of tr

6 irst Arabidopsis (Arabidopsis thaliana) pex1 missense alleles: pex1-2 and pex1-3pex1-2 displayed pero

7 h congenital glaucoma revealed clustering of missense and deletion mutations in the 5-phosphatase dom

8 with 8/4 and 9/3 structures may function as missense and nonsense suppressor tRNAs and/or regulatory

9 Ten mutations were missense and one was a truncation mutation; de novo occu

10 somatic TERT translocations, copy gains, and missense and promoter mutations, or germline events, in

11 densities, we identified an average of 23-24 missense and truncation alleles per gene, with at least

12 erformed in Xenopus laevis oocytes for eight missense and two nonsense mutations.

13 Most mutations in ABCC6 are missense, and many preserve transport activity but are r

14 e 9-bp duplication and one splice-site, five missense, and two nonsense variants in EBF3 were found;

15 we explored FA-gene interactions between the missense APOE polymorphisms and FA status on metabolic m

16 damaging variants (LGD and probably damaging missense) are overrepresented in probands (RR 1.37, p =

17 We identified a missense Asn396Ser mutation (rs77960347) in the endothel

18 We were able to accurately classify missense BRCA1 or BRCA2 variants known to impair homolog

19 However, missense burden signal increased in subcohorts of famili

20 ied a rare (minor allele frequency (MAF)=1%) missense c.1114C>T mutation (rs115482041) in the RCL1 ge

21 272*) variant and another family carried the missense c.6486G>C (p.Arg2162Ser) variant.

22 dentified in a proband of French ancestry; a missense (c.37G>A [p.Glu13Lys]) and a nonsense (c.94C>T

23 Five novel mutations were identified: 2 missense (c.497C>A; p.Pro166His and c.1229A>G; p.Asp410G

24 se (c.1213C > T, rs139309795, p.Arg405*) and missense (c.701A > G, rs143439626, p.Lys234Arg) mutation

25 07L as the first bona fide pathogenic RAD51D missense cancer susceptibility allele and supports the u

26 ) in 3 patients from 2 families, and a novel missense change (S866R) in another patient.

27 A missense change (S98R) in a case that completely abolish

28 mpound heterozygosity for a non-conservative missense change affecting a key residue participating in

29 Missense changes were functionally tested for their path

30 ent point variants (three nonsense and three missense changes) and two coding indels, one of them fou

31 variants (2 splice site, 2 frameshift and 10 missense changes) in GNB1 in 16 pediatric patients.

32 Rare missense coding FYCO1 variants were present in 11.3% of

33 atient with severe encephalopathy carrying a missense de novo mutation in GRIN2B(p.P553T) coding for

34 Twenty-two novel variants include nine missense, four splice site, two non-sense, one insertion

35 ard genetics approach, one nonsense and four missense Gmsacpd-c mutants were identified to have high

36 ndidate variants (13 new; 1 nonsense; and 19 missense) in 22 patients.

37 rved in infantile seizures are predominantly missense, leading to a gain of function and increased ne

38 an unusual recessive mode of inheritance for missense-mediated tubulinopathies and reinforces the sen

39 In mice, expression of a missense mutant of Jag1 (Jag1(Ndr)) disrupts bile duct d

40 We identified a missense mutation (ANGPT1, c.807G>T, p.A119S) in a famil

41 e PAX9 c.592delG mutation and a heterozygous missense mutation (c.739C>T) in the MSX1 gene.

42 siblings, we identified a single homozygous missense mutation (chr15.hg19:g.48,626,619A>G) located i

43 Mice with a missense mutation (H268Q) in Jag1 (Jag1(+/Ndr) mice) wer

44 sability (XLID) and dysmorphic features: one missense mutation (p.Arg284Pro) and one mutation leading

45 Recently, a missense mutation (R246Q) in LMX1B was reported as a cau

46 In mice carrying a Tuba1a missense mutation (S140G), neurons accumulate, and glial

47 To date, a single missense mutation (S163R) in the C1QTNF5 gene, encoding

48 relatives) heterozygous for a constitutional missense mutation affecting one of five neighboring NF1

49 an familial hemiplegic migraine type 1 R192Q missense mutation as well as in wild-type mice and rats.

50 Notably, we found the identical homozygous missense mutation c.1382C>T (p.Pro461Leu) in four affect

51 on of the PA phenotype with the heterozygous missense mutation c.4136G>T (p.Arg1379Leu) in cadherin-r

52 A heterozygous missense mutation c.634G > C (p.G212R) substitution was

53 ial retrusion is limited to association of a missense mutation in BMP3 among small brachycephalic dog

54 mosome 11 (logarithm of the odds = 7.4) to a missense mutation in cytoplasmic FMR1-interacting protei

55 viduals with idiopathic SZ identified a rare missense mutation in DGCR2, further suggesting that DGCR

56 The serum of a patient with a V262F missense mutation in Eda, which caused a milder form of

57 d mapped, one was strongly correlated with a missense mutation in Gatm in a recessive model of inheri

58 We identified in her a homozygous missense mutation in IFIH1 that encodes MDA5.

59 alate, we discovered that they share a novel missense mutation in IFT88 (c.915G > C, p.E305D), sugges

60 (rs12129938 in PCNXL2), 3q26.2 (rs6793295 a missense mutation in LRCC34 near TERC), 5q22.1 (rs732274

61 with at least one truncation or deleterious missense mutation in more than 90% of the captured wheat

62 We also found that a deafness-causing missense mutation in otoferlin attenuates binding betwee

63 dings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the

64 ickle cell disease results from a homozygous missense mutation in the beta-globin gene that causes po

65 hole-exome sequencing, we identified a novel missense mutation in the binding domain of the STAT3 pro

66 ntified a unique patient with a heterozygous missense mutation in the coiled-coil domain of STAT5B th

67 A missense mutation in the dynactin Arp1 subunit causes mo

68 We recently reported that a rare missense mutation in the gene for the transcriptional re

69 Here, we demonstrate how a missense mutation in the second zinc finger of Kruppel-l

70 Recent findings that a single missense mutation in the viral envelope glycoprotein com

71 Notably, a missense mutation in transcription factor TFIIB suppress

72 quently reported but mildly pathogenic S250F missense mutation into the murine Aadc gene.

73 Our study shows that a common CPT1A missense mutation is strongly associated with a range of

74 Missense mutation is the most common mutation type in he

75 hinia revealed that 84% of probands harbor a missense mutation localized to a constrained region of S

76 9886A>G was located in exon 9 leading to the missense mutation p.Lys330Glu (K330E) in the kringle 3 d

77 ort a pair of siblings carrying a homozygous missense mutation p.P333L in EEF1A2 who exhibited global

78 orthologue of the most frequent human desmin missense mutation R350P.

79 Herein, we investigated D477G missense mutation, an unprecedented dominant-acting muta

80 A heterozygous missense mutation, c.1952 A>T (p.E651V) in STAT4 was ide

81 Here, we investigated an LN domain missense mutation, LAMB2-S80R, which was discovered in a

82 Here, we show that a missense mutation, p.Arg918Gln (c.2753G > A), of NLRP3 c

83 spontaneous mouse mutant shaky, caused by a missense mutation, Q177K, located in the extracellular b

84 derstand the biological consequences of this missense mutation, we created transgenic mice carrying t

85 An X-chromosome exome screen identified a missense mutation, which encodes an amino acid in the te

86 ity of AME resulting from each known HSD11B2 missense mutation.

87 ygous c.206A-->T transition, causing an E69V missense mutation.

88 y of mutant transcripts, or loss-of-function missense mutation.

89 nic splicing mutation (c.1164+5C>T), and six missense mutations (c.152C>T [p.Ser51Leu], c.160_161deli

90 Collectively, these recurrent missense mutations affect approximately 0.8% of unrelate

91 Structural modeling suggested that the missense mutations affect DNA binding.

92 Neomorphic missense mutations affecting crucial lysine residues in

93 Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a

94 Here we report monoallelic missense mutations affecting lysine 91 in the histone H4

95 type correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amin

96 dies have identified recurrent but divergent missense mutations affecting the substrate-recognition d

97 The E1841K mutation is among the common MYH9 missense mutations and has been associated with nephropa

98 isruptive CNVs and SNVs, resulting in severe missense mutations and mapping to predicted fetal brain

99 Protein structural analysis reveals that the missense mutations are either close to the ATP or peptid

100 compared with two truncating mutations, two missense mutations associated with less severe CKD in ad

101 Most pathogenic CDC73 missense mutations associated with the HPT-JT syndrome a

102 al methods have been proposed to predict how missense mutations can affect protein structure and func

103 contain multiple tubulin isotypes, and their missense mutations cause a range of neurodevelopmental d

104 In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS

105 Some missense mutations changed essential residues conserved

106 A simple in silico evaluation of novel missense mutations could help predict the often-diverse

107 with classic or later-onset FD caused by GLA missense mutations developed prominent and similar cardi

108 Furthermore, CLP associated IRF6 missense mutations disrupt the ability of IRF6 to bind t

109 nd biochemical data indicate that most CDC73 missense mutations disrupt the folding of the hydrophobi

110 The majority of RTT missense mutations disrupt the interaction of the MeCP2

111 Missense mutations distributed throughout NMDAR subunits

112 Biochemical analyses of three human missense mutations found in JS and of two consensus GTPa

113 Evaluation of many of the TBK1 missense mutations found in patients with ALS or FTD is

114 of the deleterious effects caused by K1/K10 missense mutations found in patients with phenotypic ski

115 All 14 missense mutations found in this 310-helix reduced secre

116 ply our method to a dataset of 4,061 de novo missense mutations from published exome studies of trios

117 Additionally, introduction of the three missense mutations from the affected subjects into Sacch

118 Cells transfected with the MYH3 missense mutations had reduced TGFbeta signaling, reveal

119 y a hypertensive phenotype, and several RGS2 missense mutations have been found predominantly in hype

120 ixed-lineage leukemia (MLL) in leukemia, and missense mutations have been identified in Wilms tumor a

121 Although de novo missense mutations have been predicted to account for mo

122 L13B is a ciliary GTPase with at least three missense mutations identified in JS patients.

123 We then functionally characterized 18 missense mutations identified in our classic BS cohort a

124 Five percent to 10% of all single missense mutations improve solubility, matching theoreti

125 utations in 58 patients from 31 families and missense mutations in 19 patients from 14 families.

126 Specifically, we integrated 746,631 missense mutations in 4,997 tumor samples across 16 majo

127 We discovered bi-allelic missense mutations in ADAMTS3.

128 This opens up the possibility that missense mutations in ATOH1 could increase human vulnera

129 iopulmonary involvement identified biallelic missense mutations in ATP6V1E1 and ATP6V1A, which encode

130 identity, including MAFB, or by heterozygous missense mutations in CHN1, which encodes alpha2-chimaer

131 Here we identified six different de novo missense mutations in DHX30 in twelve unrelated individu

132 ts shed new light on the mechanisms by which missense mutations in DNA-binding domains of transcripti

133 Only a few cases of de novo missense mutations in EHMT1 giving rise to KS have been

134 europathies are linked to heterozygosity for missense mutations in five ARS genes, which points to a

135 e sequencing identified de novo heterozygous missense mutations in four probands with intellectual di

136 ntified three patients with novel homozygous missense mutations in FOXI1 (p.L146F and p.R213P) predic

137 cEDS can be caused by heterozygosity for missense mutations in genes COL5A2 and COL5A1, which enc

138 Pathogenic missense mutations in human LAMB2 cluster in or near the

139 Rare missense mutations in MYH9 cause macrothrombocytopenia a

140 e to deleterious nonsense or homeobox domain missense mutations in NKX6-2.

141 Gain-of-function missense mutations in NLRP3 result in a group of autoinf

142 We identified the properties of de novo missense mutations in patients with neurodevelopmental d

143 portance correlating strongly to the rate of missense mutations in patients.

144 to the loss of protein expression; however, missense mutations in PBRM1 have been identified and ten

145 althy children who are heterozygous for rare missense mutations in POLR3A (one patient), POLR3C (one

146 r patients showed a heterozygous deletion or missense mutations in PPP2R4 Cancer-associated PTPA muta

147 five individuals with two recurrent de novo missense mutations in RAB11B; c.64G>A; p.Val22Met in thr

148 Here, we selected 16 rare, missense mutations in RGS2 identified in various human e

149 Genetic studies uncovered heterozygous missense mutations in SAMD9L, a tumor suppressor gene lo

150 cess of COPII-mediated vesicle transport and missense mutations in TFG cause several neurodegenerativ

151 ongenital skeletal muscle disorder caused by missense mutations in the beta-cardiac/slow skeletal mus

152 We report here that missense mutations in the epigenetic regulator SMCHD1 ma

153 Germline H255Y and K508R missense mutations in the folliculin (FLCN) gene have be

154 and structural simulations for three de novo missense mutations in the GABAA receptor beta3 subunit g

155 De novo heterozygous missense mutations in the gene encoding translation elon

156 Moreover, missense mutations in the gene for TBLR1 that are associ

157 movements, and can be caused by heterozygous missense mutations in the kinesin motor protein KIF21A o

158 of the protein, but may contrast the role of missense mutations in the lysine acetyltransferase domai

159 METDelta14-driven NSCLC, only to observe new missense mutations in the MET activation loop, critical

160 e also report the identification of 2 unique missense mutations in the NME proteins in patients with

161 air cell function.SIGNIFICANCE STATEMENT Two missense mutations in the Pejvakin (PJVK or DFNB59) gene

162 consanguineous families, we found homozygous missense mutations in the PNPLA1 gene, six of them being

163 Here de novo missense mutations in the RPS23 gene, which codes for uS

164 Missense mutations in the serine peptidase inhibitor Kaz

165 in Man (OMIM) # 614558] is caused by de novo missense mutations in the voltage-gated sodium channel g

166 We detected 2 rare missense mutations in TLR3: 1 in a patient with HSE (p.L

167 N-Ethyl-N-nitrosourea-induced (ENU-induced) missense mutations in Tpm4 or targeted inactivation of t

168 ng the initial case, with three heterozygous missense mutations in WFS1 (4/5 confirmed de novo).

169 though the mechanism of action of pathogenic missense mutations is currently unclear.

170 the protein, we show that YY1 deletions and missense mutations lead to a global loss of YY1 binding

171 range of molecular mechanisms by which FVIII missense mutations lead to moderate to severe hemophilia

172 In vitro studies demonstrated that SNCA missense mutations may either enhance or diminish alphaS

173 Here, we mapped more than 47,000 somatic missense mutations observed in approximately 7,000 tumor

174 Finally, computational modeling of 25 missense mutations of CYP11B1 revealed that specific mod

175 ubunits including EED also contributing, and missense mutations of some of these residues have been f

176 urons, we analyzed the effects of 67 tubulin missense mutations on neurite growth.

177 and atomic-level modeling of the effects of missense mutations on receptor function.

178 However, many tumors exhibit missense mutations or in-frame deletions or insertions,

179 We identified the novel missense mutations p.S148F, p.R114Q and p.L177W in the B

180 s demonstrate that both FLCN H255Y and K508R missense mutations promote aberrant kidney cell prolifer

181 n order to determine if FLCN H255Y and K508R missense mutations promote aberrant kidney cell prolifer

182 tudies revealed altered functionality of the missense mutations R52G, G64V, A92T, P94S, P96L, A106T a

183 However, the majority of missense mutations remain uncharacterized.

184 shift, nonsense, and essential splicing) and missense mutations resulting in poor residual conductanc

185 Further analysis of the missense mutations showed no apparent effects on mitosis

186 TP53 missense mutations significantly influence the developme

187 SMA-causing missense mutations that block multimerization of full-le

188 dds with the concept of broad functionality, missense mutations that cause Rett syndrome are concentr

189 e disorders caused by private, non-recurrent missense mutations that result in varying phenotypes are

190 These observations suggest that some of the missense mutations that segregate in human populations,

191 ation (Ile469_Cys471delinsMetLeu) and 8 TGM1 missense mutations that to our knowledge have not been p

192 Functional characterization of four selected missense mutations using whole cell patch-clamping in ts

193 lled classic BS patients carrying homozygous missense mutations with well-described functional conseq

194 ure termination, tandem repeat, nonstop, and missense mutations).

195 Our results demonstrate that these NF1 missense mutations, although located outside the GAP-rel

196 mine the effects of Rett-syndrome-associated missense mutations, and make comparisons to the related

197 0% of the patient population with identified missense mutations, are located in the interface between

198 hree unrelated families harbor either of two missense mutations, c.347G>T p.(Arg116Leu) or c.1106C>T

199 New missense mutations, for which genotype-phenotype correla

200 novo mutations in this gene, including five missense mutations, identified by the Deciphering Develo

201 Majority of p53 mutations in cancer are missense mutations, leading to the expression of full-le

202 istinct disease phenotypes: gain-of-function missense mutations, linked in two different families to

203 ions, four are nonsense mutations, seven are missense mutations, two are frame shift mutations and on

204 plicated in membrane recognition and Jagged1 missense mutations, which affect these loops and are ass

205 rly understood oncogenic activity encoded by missense mutations.

206 DD identified 21 new patients with identical missense mutations.

207 ntricular ejection fraction, than those with missense mutations.

208 rs (NDDs) and highlight 35 genes with excess missense mutations.

209 The probability of finding the same missense NACC1 variant by chance in 7 out of 17,228 indi

210 rare variants, 22 were present in cases (18 missense, one splice acceptor, one frameshift and two ne

211 Knockdown of all 12 genes with missense or loss-of-function DNMs showed that the orthol

212 he range of symptoms seen in patients with a missense or loss-of-function variant in KCNB1 and how th

213 orm of the disease due to heterozygosity for missense or nonsense mutations in MYH3, which encodes em

214 Mutations were missense or small in-frame deletions that affect amino a

215 nhemolytic phenotype resulted from nonsense, missense, or frameshift mutations in prfA Five strains c

216 ion), and a 41-year-old individual with CRC (missense p.Val54Leu), but not in controls.

217 Evidence of increased missense PMM burden was not seen in the full cohort.

218 We found no discernable effect of the missense polymorphism resulting in the amino acid substi

219 port seven individuals with distinct de novo missense RAC1 mutations and varying degrees of developme

220 udies, we show that in French Canadians, the missense RAD51D variant c.620C>T;p.S207L is highly preva

221 ovarian cancer patients carrying deleterious missense RAD51D variants.

222 the APOC3 Ala43Thr (A43T) variant, the only missense (rather than protein-truncating) variant in APO

223 either midregional proANP or BNP and a rare missense single nucleotide polymorphism in NT-proBNP ser

224 r BP, of which 4 are new BP loci: rs9678851 (missense, SLC4A1AP), rs7437940 (AFAP1), rs13303 (missens

225 We identified a missense SNP (rs2075291, G > T, G185C) in APOA5 for CAD

226 We identified a missense SNP, rs2075291, in APOA5 associated with CAD at

227 Additionally, we found that for missense SNPs within PCSK9, alterations in both proteoly

228 ense, SLC4A1AP), rs7437940 (AFAP1), rs13303 (missense, STAB1), and rs1055144 (7p15.2).

229 in a dominant pattern and causes a damaging missense substitution (D435N).

230 man ZNHIT3 mRNA, suggesting that the patient missense substitution causes disease through a loss-of-f

231 The p.N404Y missense substitution is associated with loss of IL-6, I

232 The sequence variants in our cases included missense substitutions adjacent to the PBX1 homeodomain

233 syndromes were found to harbor heterozygous missense substitutions in the paralogous glutamic acid r

234 The primary defect associated with the missense substitutions ranged from inefficient internal

235 the majority of TP53 mutations in tumors are missense substitutions, which lead to the expression of

236 loss-of-function mutations, and four harbor missense substitutions.

237 ependent novel BP-associated SNV, rs3416322 (missense, SYNPO2L) at a known locus, uncorrelated with t

238 The DGCR2 missense SZ-risk mutation had a pathogenic impact on pro

239 mitation in existing tools, we introduce the missense tolerance ratio (MTR), which summarizes availab

240 Rare missense, truncating or splice-site variants shared by t

241 Here we report a missense variant (g.74779296G>A; p.Arg90His) in NCF1, en

242 estigations identified a previously reported missense variant (p.[N986I]) and 7 variants not previous

243 In particular, the p.Thr270Ala missense variant affects a highly conserved residue in t

244 curred de novo in eight individuals, and the missense variant c.625C>T (p.Arg209Trp) was inherited by

245 5 affected members identified a single novel missense variant in a highly conserved residue of FLNC (

246 We discovered a 0.6% frequency missense variant in ADCY7 that doubles the risk of ulcer

247 s in NACC1 makes this excess of an identical missense variant in all seven individuals more remarkabl

248 ta reveal the molecular mechanism by which a missense variant in APOC3 causes reduced circulating TG

249 dentified the same novel c.2426C>T (p.P809L) missense variant in EHMT1 To examine the functional sign

250 or CHD, including a new T2D association at a missense variant in HLA-DRB5 (odds ratio (OR) = 1.29).

251 The discovery of a missense variant in PLEC affecting AF combined with rece

252 ent patients, each of whom carried a de novo missense variant in srp54 (encoding signal recognition p

253 with developmental delay, 20 (77%) carried a missense variant in the ion channel domain of KCNB1, wit

254 likely causal variant identified was a novel missense variant in the X-linked GRIA3 gene, which has b

255 The other novel missense variant mapped to the EPAS1 gene encoding the h

256 Two patients were homozygous for the missense variant p.Gly131Glu, whereas one patient was co

257 atio [OR]: 1.26; p = 3.1 x 10(-18)), and the missense variant p.Gly4098Ser in PLEC (frequency = 1.2%;

258 A recurrent de novo missense variant within the C-terminal Sin3-like domain

259 with osteoarthritis total hip replacement: a missense variant, c.1141G>C (p.Asp369His), in the COMP g

260 Importantly, we reveal a patient missense variant, L344P, that largely escapes proteasoma

261 me sequencing, we identified rare homozygous missense variants (c.526C>T [p.Arg176Trp] and c.629C>T [

262 evel, we introduced three disease-associated missense variants (p.Cys87Phe [c.260G>T], p.Tyr240Asp [c

263 cted to prevent CalDAG-GEFI expression and 6 missense variants affecting the CalDAG-GEFI CDC25 domain

264 N1 de novo alterations included seven unique missense variants and nine in-frame deletions/duplicatio

265 ionality of the top 22 patient-derived BRCA1 missense variants and the contribution of different doma

266 Interpretation of missense variants can be especially difficult when the v

267 We have now identified de novo missense variants clustering in the BTB-domain-encoding

268 to p = 4.1 x 10(-6) for LOF and deleterious missense variants combined, and augmented further after

269 De novo missense variants explained a larger proportion of indiv

270 ovement in the ability to predict pathogenic missense variants from background missense variation in

271 Using 14,819 benign or pathogenic missense variants from the ClinVar database, we compared

272 Large numbers of rare and unique titin missense variants have been discovered in both healthy a

273 al or psychiatric disorders, we investigated missense variants identified in the intracellular C-term

274 ed a structural model of WDR26 and note that missense variants identified in these individuals locali

275 We also identified likely causal missense variants in a gene implicated in primary immune

276 This is the first report to suggest that missense variants in EHMT1 that lead to protein misfoldi

277 nifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an

278 We detected a burden of very rare, damaging missense variants in known Crohn's disease risk genes, s

279 Selective constraint against missense variants in NACC1 makes this excess of an ident

280 m two unrelated families carrying homozygous missense variants in SUFU.

281 We have established missense variants in the BTB-domain-encoding region of R

282 De novo KCNB1 missense variants in the ion channel domain and loss-of-

283 ions in four and potentially disease-causing missense variants in two families (1.4%).

284 ass spectrometry also demonstrated that both missense variants led to altered protein-protein interac

285 y provides functional data for 16 human RGS2 missense variants on their effects on AT1R-mediated calc

286 However, we identified 2 or more missense variants predicted to be deleterious in each of

287 life, whereas those individuals with milder missense variants presented with severe global developme

288 are generally pathogenic, interpretation of missense variants remains a challenge.

289 eshift, and splice-site variants, along with missense variants resulting in <25% of wild-type ANGPTL3

290 Structural modeling of missense variants suggests deleterious effects to the en

291 To date, patient-derived missense variants that disrupt PALB2 binding have been i

292 d with the patients, only 1 of the control's missense variants was nonreported (P=0.007; Fisher exact

293 Rare missense variants within NMDAR subunits have been identi

294 independent test sample of case and control missense variants, case variants (0.83 median score) con

295 which multiple unrelated NHW cases had rare missense variants, was significantly associated with EOA

296 pathogenic missense variants from background missense variation in disease genes.

297 light regional variation in the tolerance to missense variation within the protein-coding sequence of

298 ent transcriptional regulation and that TCF4 missense variations identified in SCZ patients alter the

299 ted the effect and potential rescue of ABCB4 missense variations that reside in the highly conserved

300 Yeast modeling of novel missense YARS2 variants closely correlated with the seve