ライフサイエンスコーパス: missense mutation

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

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

3 les, which was prevented by an AH-disrupting missense mutation.

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

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

6 DD identified 21 new patients with identical missense mutations.

7 ntricular ejection fraction, than those with missense mutations.

8 and can result from alpha2-chimaerin (CHN1) missense mutations.

9 n EBF3 include multiple loss-of-function and missense mutations.

10 notype due to homozygous choline transporter missense mutations.

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

12 rly understood oncogenic activity encoded by missense mutations.

13 valuate the structural consequences of these missense mutations, a combination of biophysical and cel

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

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

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

17 Neomorphic missense mutations affecting crucial lysine residues in

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

19 By contrast, most missense mutations affecting highly conserved residues f

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

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

22 mune pathology was observed in patients with missense mutations affecting the SET domain and its adja

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

24 This A178D missense mutation, affecting a conserved residue in the

25 The missense mutation affects a highly conserved amino acid

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

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

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

29 rtantly, AIS cases harbor mainly non-glycine missense mutations and lack the clinical features of mon

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

31 Two coding polymorphisms were benign missense mutations and the rest were synonymous.

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

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

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

35 Amino acids affected by likely pathogenic missense mutations are either crucial for the stability

36 Gln358SerfsTer13 frameshift, and p.Gln376Arg missense mutations are likely to impact the interaction

37 cause of LS, the functional implications of missense mutations are often unclear.

38 0% of the patient population with identified missense mutations, are located in the interface between

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

40 To address this question, we asked whether a missense mutation associated with human stuttering cause

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

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

43 lated free energy changes for every possible missense mutation at once.

44 Whole-exome sequencing identified a CCNF missense mutation at this locus.

45 , ERBB2, TP53, and CTNNB1) that had enriched missense mutations at their phosphorylation sites in pan

46 e exome sequencing revealed the heterozygous missense mutation c.1067G > A (p.Cys356Tyr) in ANO5 gene

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

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

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

50 e-exome sequencing, we identified homozygous missense mutations c.1382C>T, c.1537C>T, c.1970A>G, and

51 member of the calpain proteases: a paternal missense mutation (c.1511C>A; p.P504Q) and a maternal de

52 ntified the same, cosegregating heterozygous missense mutation (c.4447G>A; p.E1483K) in SCN8A, encodi

53 We detected a heterozygous missense mutation (c.632G>A [p.Arg211Gln]) in WNT10B in

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

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

56 We identified a homozygous missense mutation, c.1308 G-->A (p.V421M) in FOXRED1 in

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

58 Using Sanger sequencing, a homozygous missense mutation, c.2T>C (p.Met1?), predicted to result

59 An additional homozygous missense mutation, c.31G>T (p.Asp11Tyr), was found in a

60 consanguineous family revealed a homozygous missense mutation, c.973C>T (p.His325Tyr), in RCBTB1.

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

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

63 While TP53 missense mutations can also contribute gain-of-function

64 These results reveal how disease-causing missense mutations can disrupt transcriptional cooperati

65 We show how studying private missense mutations can lead to insights into the genetic

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

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

68 , cytosolic isoleucyl-tRNA synthetase (IARS) missense mutations cause hereditary weak calf syndrome.

69 o testis in mammals and represents the first missense mutation causing isolated, non-syndromic 46,XX

70 mutations causing non-lethal optic atrophy, missense mutations causing lethal congenital pontocerebe

71 Some missense mutations changed essential residues conserved

72 We identified a homozygous missense mutation, changing a conserved amino acid, in A

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

74 We show that de novo missense mutations clustered tightly within a single spe

75 icacy and how genetic ablation via the R139C missense mutation confers sensitivity to thiopurine trea

76 ransgenic animals expressing Drosophila Fig4 missense mutations corresponding to human pathogenic mut

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

78 bers in our family cosegregated with a novel missense mutation Cys694Arg that alters a highly conserv

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

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

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

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

83 Missense mutations distributed throughout NMDAR subunits

84 The proteins bearing missense mutations failed to bind target DNA sequences o

85 c and patient data we shortlisted 10 diverse missense mutations for characterisation.

86 New missense mutations, for which genotype-phenotype correla

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

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

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

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

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

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

93 We took advantage of a known missense mutation (G321S) that has been linked to progre

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

95 ecombinant PPA2 enzymes modeling hypomorphic missense mutations had decreased activity that correlate

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

97 Patients with EPP and FECH missense mutations had significantly lower ePPIX levels

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

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

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

101 Detecting missense mutation hotspot regions in three-dimensional (

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

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

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

105 Further, why a given BTHS-associated missense mutation impairs TAZ function has only been det

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

107 In addition, we identified a Ctnna1 missense mutation in a chemically induced mouse mutant,

108 Here we show that a missense mutation in a classical pigmentation gene, mela

109 that the majority of patients have the T60A missense mutation in ATTR where tyrosine is replaced by

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

111 and the late2-1D mutant was found to carry a missense mutation in CDFc1 that impairs its capacity to

112 We identified a novel, heterozygous missense mutation in CSF1R [c.1990G > A p.(E664K)] by ex

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

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

115 g identified candidate variants, including a missense mutation in DUOX2 that impaired its function an

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

117 Whole exome sequencing identified a missense mutation in FLNA (Filamin A), an actin-binding

118 DPKD-affected families identified one with a missense mutation in GANAB, encoding glucosidase II subu

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

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

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

122 These data suggest that a missense mutation in LOX is associated with aortic disea

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

124 isolated genetic entity CMT2G is caused by a missense mutation in LRSAM1 and should be reclassified a

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

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

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

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

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

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

131 A missense mutation in the dynactin Arp1 subunit causes mo

132 A homozygous missense mutation in the evolutionarily conserved alpha-

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

134 A missense mutation in the giant protein titin is the only

135 Here we investigated the N46K missense mutation in the GlyR alpha1 subunit gene found

136 Herein, we report a novel heterozygous missense mutation in the ITGB4 gene exerting a dominant

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

138 A missense mutation in the substrate of PRC2, histone H3K2

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

140 nd we identified the c.2810C>G (p.Pro937Arg) missense mutation in the zinc finger protein 687 gene (Z

141 ctional evidence implicating the novel A178D missense mutation in titin as the cause of a highly pene

142 Notably, a missense mutation in transcription factor TFIIB suppress

143 One mutant had a missense mutation in tryptophan synthase; however, this

144 regulatory gene WDR1 We report a homozygous missense mutation in WDR1 in two siblings causing period

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

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

147 We report that mice inheriting missense mutations in a condensin II subunit (Caph2(nes)

148 We discovered bi-allelic missense mutations in ADAMTS3.

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

150 identified 11 male patients with hemizygous missense mutations in ATP6AP1, encoding accessory protei

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

152 We identified 3 heterozygous missense mutations in BMP6 (p.Pro95Ser, p.Leu96Pro, and

153 n approach for assessing the contribution of missense mutations in carcinogenesis is to identify gene

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

155 tified three families affected by homozygous missense mutations in CIT, encoding citron rho-interacti

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

157 targeting" can be used effectively to study missense mutations in DNA mismatch repair (MMR) genes.

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

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

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

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

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

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

164 pical of TTD who harbor different homozygous missense mutations in GTF2E2 (c.448G>C [p.Ala150Pro] and

165 ic cancers reportedly contain high-frequency missense mutations in histone H3, yet the underlying onc

166 In addition, we identify several missense mutations in human cancers that disrupt the POT

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

168 stature, we identified compound heterozygous missense mutations in KIF14 (NM_014875.2;c.2545C>G;p.His

169 Missense mutations in kinesin family member 5A (KIF5A) c

170 Rare missense mutations in MYH9 cause macrothrombocytopenia a

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

172 Gain-of-function missense mutations in NLRP3 cause the disease spectrum k

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

174 This work associates missense mutations in NSMCE3 with an autosomal recessive

175 In most cases, missense mutations in one TP53 allele are followed by lo

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

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

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

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

180 me sequencing revealed compound heterozygous missense mutations in PPA2 in affected infants of each f

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

182 rebellar ataxia type 23 (SCA23) is caused by missense mutations in prodynorphin, encoding the precurs

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

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

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

186 e on an "experiment of nature" in which rare missense mutations in tau cause familial neurodegenerati

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

188 ents with PCDH19-FE, about half of which are missense mutations in the adhesive extracellular domain.

189 Dominant missense mutations in the amyloid beta (Abeta) precursor

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

191 Missense mutations in the C-terminal portion of ATP7A ha

192 tic activity and stability of GlnRS, whereas missense mutations in the catalytic domain induce misfol

193 we report the identification of heterozygous missense mutations in the CTNNA1 gene (encoding alpha-ca

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

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

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

197 Several missense mutations in the gene encoding alpha-synuclein

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

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

200 CS is associated with multiple missense mutations in the genes encoding the regulatory

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

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

203 nalyzed NK cells from patients with CHS with missense mutations in the LYST ARM/HEAT (armadillo/hunti

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

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

206 ur unrelated pedigrees to identify biallelic missense mutations in the nuclear-encoded mitochondrial

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

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

209 resistance occurs through the acquisition of missense mutations in the rifampin resistance-determinin

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

211 Somatic missense mutations in the Ser/Thr protein phosphatase 2A

212 Missense mutations in the serine peptidase inhibitor Kaz

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

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

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

216 MBTPS2 missense mutations in two independent kindreds with mode

217 Missense mutations in ubiquilin 2 (UBQLN2) cause ALS wit

218 aortic aneurysms and dissections (TAAD) are missense mutations in vascular smooth muscle (SM) alpha-

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

220 Over-expression of human missense mutations in zebrafish also resulted in impaire

221 zation and binding dynamics for twelve MeCP2 missense mutations (including two novel and the five mos

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

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

224 Missense mutation is the most common mutation type in he

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

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

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

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

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

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

231 Missense mutation load, predicted neoantigen load, and e

232 In addition, we show that several PCDH19-FE missense mutations localize to the adhesive interface an

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

234 In contrast, heterozygous gain-of-function missense mutations, mainly localized at the C terminus,

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

236 ecapitulating the most common RTT-associated missense mutation, MeCP2 T158M.

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

238 This study describes families with a novel missense mutation of LRSAM1 gene and explores pathogenic

239 mouse model for Costeff syndrome, in which a missense mutation of the mitochondrial membrane protein,

240 cing of candidate genes identified two novel missense mutations of Cx50, Cx50P59A (c.175C > G) and Cx

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

242 Even though many non-sense and missense mutations of Dcx are known, their molecular and

243 Missense mutations of fibroblast growth factor receptor

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

245 Episodic ataxia type 1 is caused by missense mutations of the potassium channel Kv1.1, which

246 Missense mutations of valosin-containing protein (VCP) c

247 The impact of somatic missense mutation on cancer etiology and progression is

248 for quantifying the effects of single-point missense mutations on affinities of small molecules for

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

250 The effect of disease-causing missense mutations on protein folding is difficult to ev

251 uate the effects of experimental and disease missense mutations on protein structure and interactions

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

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

254 9886A>G was located in exon 9 leading to the missense mutation p.Lys330Glu (K330E) in the kringle 3 d

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

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

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

258 Very recently, an additional de novo missense mutation (p.N136S) was reported in a boy with A

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

260 anger sequencing of PTF1A identified a novel missense mutation, p.P191T.

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

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

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

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

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

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

267 However, the majority of missense mutations remain uncharacterized.

268 We conclude that 1) the A488P and R655C missense mutations result in a GC-B conformation that mi

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

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

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

272 rom subjects with a heterozygous GATA4-G296S missense mutation showed impaired contractility, calcium

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

274 TP53 missense mutations significantly influence the developme

275 The Rett-associated missense mutations (T158M, R106W, and P101S) destabilize

276 We identified mutually exclusive, mosaic missense mutations that alter glutamine at amino acid 20

277 t 72% of cancer-associated ATM mutations are missense mutations that are enriched around the kinase d

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

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

280 Missense mutations that introduce or remove cysteine res

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

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

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

284 c mutant peptides (neoantigens) from somatic missense mutations, the field currently lacks a method f

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

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

287 amily, a homozygous c.5072G>C (p.Cys1691Ser) missense mutation was detected in an individual with SIT

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

289 unrelated patients harboring an RBM20 R636S missense mutation were reprogrammed to human induced plu

290 Fourteen missense mutations were detected: PIK3CA [6 (43%) of 14]

291 Both nonsense and missense mutations were identified, which impaired prote

292 The detected missense mutations were mainly located in the domains wh

293 germline mutations, which were predominantly missense mutations, were associated with less typical pe

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

295 Six of the latter had the same missense mutation, which led to an amino acid substituti

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

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

298 lf of all human cancers lose p53 function by missense mutations, with an unknown fraction of these co

299 topology of dysferlin and show how a single missense mutation within dysferlin can exert local chang

300 e novel mutations were identified, including missense mutations within important functional domains a