Note: The original file submitted is modified to provide links to the results.
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
720-735del 7 Frameshift Fitzky et al. [1998]
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
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]