Skip to main content

Table 1 APC germline mutations in Czech and Slovak FAP patients

From: Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects

FAMILY

PHENOTYPE

NUCLEOTIDE CHANGE

CONSEQUENCE

REFERENCE

147

AFAP

c.220G>T

p.Glu74X (*)

Current paper

229

AFAP

c.230T>G

p.Leu77X

Current paper

177

AFAP

c.288_289insCC

p.Gly97ProfsX29

Current paper

176

AFAP

c.505_509delATAGA

p.Ile169X

Current paper

150

FAP

c.517_520delCCTT

p.Pro173X

[20]

179

AFAP (V)

c.531+1G>T

*

Current paper

155

FAP

c.637C>T

p.Arg213X

[25]

208

FAP

c.637C>T

p.Arg213X

[25]

164

FAP

c.645+1G>T

*

Current paper

144

FAP

c.646C>T

p.Arg216X

[26]

162

FAP

c.646C>T

p.Arg216X

[26]

174

FAP

c.646C>T

p.Arg216X

[26]

S8

FAP

c.646C>T

p.Arg216X

[26]

S7

FAP (L)

c.759_787del29

p.His255ArgfsX11

Current paper

S14

FAP (L)

c.834+1G>A

*

[14]

226

FAP

c.880delT

p.Ser294LeufsX11

Current paper

211

AFAP

c.994C>T

p.Arg332X

[27]

262

AFAP

c.1102_1103delGT

p.Val368IlefsX9

Current paper

220

AFAP

c.1111G>T

p.Gly371X

Current paper

202

FAP

c.1251delT

p.Cys417TrpfsX37

Current paper

215

FAP (L)

c.1284delA

p.Glu428AspfsX26

Current paper

S16

FAP

c.1370C>G

p.Ser457X

Current paper

173

FAP

c.1411G>T

p.Gly471X

[12]

S1

FAP

c.1624C>T

p.Gln542X

Current paper

157

FAP

c.2024delC

p.Thr675LysfsX2

Current paper

145

AFAP (V)

c.2031_2034delCAGT

p.Ser678MetfsX39

Current paper

203

FAP

c.2031_2034delCAGT

p.Ser678MetfsX39

Current paper

233

FAP

c.2390delG

p.Gly797ValfsX23

Current paper

171

FAP

c.2626C>T

p.Arg876X

[28]

S15

FAP (L)

c.2800_2803delACTT

p.Tyr935IlefsX19

[29]

195

FAP

c.2805C>A

p.Tyr935X

[30]

242

FAP

c.2805C>A

p.Tyr935X

[30]

206

FAP

c.2977_2980dupAAGT

p.Phe994X

Current paper

S10

FAP

c.3413delA

p.Asp1138ValfsX27

Current paper

153

FAP

c.3471_3474delGAGA

p.Glu1157AspfsX7

[31]

181

FAP

c.3471_3474delGAGA

p.Glu1157AspfsX7

[31]

240

FAP

c.3513dupT

p.His1172SerfsX7

Current paper

225

FAP

c.3786T>A

p.Tyr1262X

[4]

183

FAP

c.3927_3931delAAAGA

p.Glu1309AspfsX4

[25]

205

FAP

c.3927_3931delAAAGA

p.Glu1309AspfsX4

[25]

218

FAP

c.3927_3931delAAAGA

p.Glu1309AspfsX4

[25]

248

FAP

c.3927_3931delAAAGA

p.Glu1309AspfsX4

[25]

S12

FAP

c.4666dupA

p.Thr1556AsnfsX3

[32]

  1. cDNA numbering is based on reference sequence: GenBank NM_000038, +1 corresponds to the A of the ATG translation initiation codon.
  2. Novel mutations in boldface type. S – Patient of Slovak origin, V – intrafamilial variable phenotype, L – late onset of the disease; > 100 polyps. * Mutations can affect splicing
Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us