TSCH-BAUMGARTNER ET AL.


TABLE 1. Mutations in the DHCR7 Gene in Patients With Smith-Lemli-Opitz Syndrome


Base change Exon Aminoacid change Protein domaina Cons. aa Reference (1st citation)


111G>A 4 Trp 37 Stop No Yu et al. [2000]


452G>A 6 Trp 151 Stop No Fitzky et al. [1998]


682insC 7 Frameshift Wassif et al. [1998]d


762insT 7 Frameshift Wassif et al. [1998]d


IVS8-1G>C 9 Frameshift Waterham et al. [1998];


Wassif et al. [1998]d


151C>T 4 Pro 51 Ser TM Yes Fitzky et al. [1998]


278C>T 4 Thr 93 Met TM Yes Fitzky et al. [1998]


296T>C 4 Leu 99 Pro TM No Fitzky et al. [1998]


321G>C 4 Gln 107 His TM No Witsch-Baumgartner et al. [2000]


326T>C 5 Leu 109 Pro TM Yes Witsch-Baumgartner et al. [2000]


356A>T 5 His 119 Leu TM No Waterham et al. [1998]


440G>A 6 Gly 147 Asp TM Yes Witsch-Baumgartner et al. [2000]


443T>G 6 Leu 148 Arg TM Yes Yu et al. [2000]


461C>T 6 Thr 154 Met TM Yes Witsch-Baumgartner et al. [2000]


461C>G 6 Thr 154 Arg TM Yes This articlee*


470T>C 6 Leu 157 Pro TM No Fitzky et al. [1998]


502T>A 6 Phe 168 Ile TM Yes Yu et al. [2000]


506C>T 6 Ser 169 Leu TM No Witsch-Baumgartner et al. [2000]


523G>C 6 Asp 175 His TMb Yes Yu et al. [2000]


529T>C 6 Trp 177 Arg TM No Krakowiak et al. [2000]


533T>A 6 Ile 178 Asn TM No This articlee*


536C>T 6 Pro 179 Leu TM No Yu et al. [2000]


546G>C 6 Trp 182 Cys TM No Witsch-Baumgartner et al. [2000]


724C>T 7 Arg 242 Cys TM Yes Neklason et al. [1999]


725G>A 7 Arg 242 His TM Yes This articlef*


728C>G 7 Pro 243 Arg TM No Yu et al. [2000]


730G>A 7 Gly 244 Arg TM Yes Waterham et al. [1998]


740C>T 7 Ala 247 Val TM No Fitzky et al. [1998]


744G>T 7 Trp 248 Cys TM Yes Waterham et al. [1998]


808A>G 7 Met 270 Val TM Yes This articlef*


841G>A 8 Val 281 Met TM Yes Witsch-Baumgartner et al. [2000]


852C>A 8 Phe 284 Leu TM Yes Yu et al. [2000]


861C>A 8 Asn 287 Lys TMb No Yu et al. [2000]


862G>A 8 Glu 288 Lys TMb Yes This article*


866C>T 8 Thr 289 Ile TMb No Witsch-Baumgartner et al. [2000]


906C>G 8 Phe 302 Leu TM No Yu et al. [2000]


920G>A 8 Gly 307 Asp TM No This article*


925G>A 8 Gly 309 Ser TM Yes This article*


931T>G 8 Cys 311 Gly TM No Witsch-Baumgartner et al. [2000]


932G>A 8 Cys 311 Tyr TM No Witsch-Baumgartner et al. [2000]


952T>A 8 Tyr 318 Asn TM Yes Krakowiak et al. [2000]


957G>A 8 Thr 319 Ala TM Yes This article*


970T>C 9 Tyr 324 His TM No Witsch-Baumgartner et al. [2000]


976G>T 9 Val 326 Leu TM Yes Fitzky et al. [1998]


986C>T 9 Pro 329 Leu TM Yes Patrono et al. [2000]


1022T>C 9 Leu 341 Pro TM Yes Krakowiak et al. [2000]


1054C>T 9 Arg 352 Trp TM No Fitzky et al. [1998]


1055G>A 9 Arg 352 Gln TM No Witsch-Baumgartner et al. [2000]


1058T>C 9 Val 353 Ala TM No Witsch-Baumgartner et al. [2000]


1084C>T 9 Arg 362 Cys 4L Yes Witsch-Baumgartner et al. [2000]


1138T>C 9 Cys 380 Arg 4L No Witsch-Baumgartner et al. [2000]


1139G>A 9 Cys 380 Tyr 4L No Witsch-Baumgartner et al. [2000]


1139G>C 9 Cys 380 Ser 4L No Fitzky et al. [1998]


1190C>T 9 Ser 397 Leu 4L Yes Witsch-Baumgartner et al. [2000]


1210C>A 9 Arg 404 Ser 4L Yes Witsch-Baumgartner et al. [2000]


1210C>T 9 Arg 404 Cys 4L Yes Fitzky et al. [1998]


1219A>T 9 Asn 407 Tyr 4L No De Brasi D et al. [2000]


1222T>C 9 Tyr 408 His 4L TMc Yes Witsch-Baumgartner et al. [2000]


1228G>C 9 Gly 410 Arg 4L TMc No Witsch-Baumgartner et al. [2000]


1228G>A 9 Gly 410 Ser 4L TMc No Fitzky et al. [1998]


1327C>T 9 Arg 443 Cys CT No Witsch-Baumgartner et al. [2000]


1328G>A 9 Arg 443 His CT No This articleg*


1331G>A 9 Cys 444 Tyr CT No Krakowiak et al. [2000]


1337G>A 9 Arg 446 Gln CT Yes Witsch-Baumgartner et al. [2000]


1342G>C 9 Glu 448 Gln CT No Witsch-Baumgartner et al. [2000]


1342G>A 9 Glu 448 Lys CT No De Brasi et al. [2000]


1349G>T 9 Arg 450 Leu CT Yes Neklason et al. [1999]


1384T>C 9 Tyr 462 His CT No Yu et al. [2000]


1400C>T 9 Pro 467 Leu CT No This articleg*


1406G>C 9 Arg 469 Pro CT Yes Yu et al. [2000]






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