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. Author manuscript; available in PMC: 2010 Apr 1.
Published in final edited form as: Genet Med. 2009 Apr;11(4):241–247. doi: 10.1097/GIM.0b013e318197a49a

Table 3.

IRF6 exonic mutations in unrelated families with VWS and PPS.

Diagnosisa Mutation ntb nt changec aa changed exone Originf Citation
VWS truncation -219 C>T 0? 1 Brazil This study
VWS truncation -151 G>A 0? 1 Brazil This study
VWS truncation -151 G>A 0? 1 N Eur This study
VWS truncation -151 G>A 0? 1 N Eur This study
NS truncation -48 A>T 0? 2 NS This study
VWS truncation -48 A>T 0? 2 N Eur 14
VWS truncation -19 C>A 0? 2 NS This study
VWS truncation 1 A>G 0? 3 Brazil This study
VWS truncation 3 G>A 0? 3 N Eur 14
VWS missense 5 C>T Ala2Val 3 N Eur 14
VWS missense 16 C>T Arg6Cys 3 Brazil 14
VWS missense 16 C>T Arg6Cys 3 Brazil This study
VWS truncation 16 del C Arg6AlafsX3 3 NS This study
VWS truncation 16_17 ins C Arg6ProfsX13 3 N Eur This study
VWS missense 17 G>T Arg6Leu 3 N Eur This study
VWS missense 17 G>C Arg6Pro 3 N Eur This study
NS missense 26 G>A Arg9Gln 3 NS This study
VWS missense 26 G>A Arg9Gln 3 Brazil This study
VWS missense 35 C>T Pro12Leu 3 N Eur This study
VWS missense 39 G>T Trp13Cys 3 Brazil This study
VWS truncation 43_44 ins ATAG Val15AspfsX5 3 NS This study
VWS missense 47 C>T Ala16Val 3 Belgium 21
VWS truncation 49_64 del Gln17SerfsX23 3 N Eur 14
VWS missense 50 A>G Gln17Arg 3 Brazil This study
VWS missense 52 G>A Val18Met 3 N Eur 14
VWS missense 53 T>C Val18Ala 3 N Eur 14
VWS missense 56 A>G Asp19Gly 3 Germany This study
VWS missense 58 G>A Ser20Asn 3 NS This study
PPS missense 65 T>C Leu22Pro 3 Belgium 21
VWS truncation 69 C>A Tyr23X 3 N Eur 14
VWS missense 71 C>T Pro24Leu 3 N Eur This study
VWS missense 74 G>T Gly25Val 3 Belgium This study
VWS missense 83 G>T Trp28Leu 3 Brazil This study
VWS truncation 99 dup T Lys34X 3 N Eur This study
VWS missense 101 A>C Lys34Thr 3 NS This study
VWS missense 104 G>C Arg35Pro 3 Brazil This study
VWS missense 107 T>C Phe36Ser 3 N Eur This study
VWS missense 115 C>G Pro39Ala 3 N Eur 14
VWS truncation 136 del C His46IlefsX15 3 N Eur This study
VWS truncation 154 G>T Glu52X 3 N Eur This study
VWS Truncation 161 dup A Asn54LysfsX3 3 Germany This study
VWS missense 167 T>C Ile56Thr 3 Brazil This study
PPS splicing 174 G>A (80%>8%) p.? 3 NS This study
VWS missense/splicing 175 G>T (58%>8%) p.? 4 Brazil This study
PPS missense 178 T>G Trp60Gly 4 N Eur 14
VWS missense 180 G>T Trp60Cys 4 Brazil This study
VWS missense 181 G>A Ala61Thr 4 NS This study
VWS missense 182 C>G Ala61Gly 4 N Eur 14
VWS missense 191 T>C Thr64Ile 4 Belgium 21
PPS missense 197 A>C Lys66Thr 4 N Eur 14
VWS missense 197_199 delinsGGG Lys66_Tyr67delinsArgAsp 4 N Eur This study
PPS missense 200 A>G Tyr67Cys 4 Belgium This study
VWS Truncation 201 C>A Tyr67X 4 Germany 16
VWS truncation 202 C>T Gln68X 4 N Eur 14
VWS truncation 202 C>T Gln68X 4 N Eur 14
VWS missense 208 G>C Gly70Arg 4 N Eur 14
VWS missense 208 G>C Gly70Arg 4 N Eur 14
VWS missense 221 C>T Pro74Leu 4 Brazil This study
VWS missense 221 C>T Pro74Leu 4 Brazil This study
VWS missense 221 C>G Pro74Arg 4 N Eur This study
VWS duplication 223_240 dup Asp75_Lys80dup 4 N Eur This study
VWS missense 226 C>T Pro76Ser 4 N Eur 14
VWS missense 230 C>A Ala77Asp 4 Brazil This study
PPS missense 244 C>A Gln82Lys 4 N Eur 14
VWS missense 246 G>C Gln82His 4 Brazil This study
PPS missense 250 C>T Arg84Cys 4 Belgium This study
PPS missense 250 C>T Arg84Cys 4 Belgium This study
PPS missense 250 C>T Arg84Cys 4 Brazil This study
PPS missense 250 C>T Arg84Cys 4 NS This study
PPS missense 250 C>T Arg84Cys 4 NS This study
PPS missense 250 C>T Arg84Cys 4 Germany This study
PPS missense 250 C>T Arg84Cys 4 N Eur 14
PPS missense 250 C>T Arg84Cys 4 N Eur 14
PPS missense 250 C>T Arg84Cys 4 N Eur 14
PPS missense 250 C>T Arg84Cys 4 N Eur This study
PPS missense 250 C>T Arg84Cys 4 N Eur This study
PPS missense 250 C>T Arg84Cys 4 N Eur This study
PPS missense 250 C>T Arg84Cys 4 N Eur This study
PPS missense 250 C>T Arg84Cys 4 N Eur 14
PPS missense 250 C>T Arg84Cys 4 N Eur 14
VWS missense 250 C>T Arg84Cys 4 Brazil This study
VWS missense 250 C>T Arg84Cys 4 Brazil This study
VWS missense 250 C>T Arg84Cys 4 NS This study
PPS missense 251 G>A Arg84His 4 NS This study
PPS missense 251 G>A Arg84His 4 NS This study
PPS missense 251 G>A Arg84His 4 N Eur 14
PPS missense 251 G>A Arg84His 4 N Eur This study
PPS missense 251 G>A Arg84His 4 N Eur 14
PPS missense 251 G>A Arg84His 4 Belgium This study
VWS missense 251 G>A Arg84His 4 Belgium This study
VWS missense 251 G>A Arg84His 4 N Eur This study
VWS missense 251 G>C Arg84Pro 4 Belgium This study
VWS missense 251 G>C Arg84Pro 4 UK This study
VWS missense 259 C>T Leu87Phe 4 Brazil This study
VWS missense 259 C>T Leu87Phe 4 Brazil This study
NS missense 262 A>T Asn88Tyr 4 NS This study
VWS missense 262 A>C Asn88His 4 Brazil This study
VWS missense 262 A>C Asn88His 4 N Eur 14
VWS missense 263 A>G Asn88Ser 4 N Eur This study
PPS missense 265 A>G Lys89Glu 4 N Eur 14
VWS missense 265 A>G Lys89Glu 4 Brazil This study
VWS missense 268 A>G Ser90Gly 4 N Eur 14
VWS missense 269 G>T Ser90Ile 4 Belgium This study
VWS missense 274 G>A Glu92Lys 4 Brazil This study
VWS missense 274 G>A Glu92Lys 4 Brazil This study
VWS missense 274 G>A Glu92Lys 4 Brazil This study
VWS truncation 274 G>T Glu92X 4 Brazil This study
VWS truncation 274 G>T Glu92X 4 N Eur 14
VWS missense 284 T>C Leu95Pro 4 N Eur This study
VWS missense 292 G>C Asp98His 4 N Eur 14
VWS missense 293 A>G Asp98Gly 4 Brazil This study
VWS missense 298 A>G Thr100Ala 4 Belgium 21
VWS missense 299 C>T Thr100Ile 4 N Eur This study
VWS missense 328 A>T Ile110Leu 4 Belgium This study
VWS missense 332 A>G Tyr111Cys 4 Brazil This study
VWS missense 332 A>G Tyr111Cys 4 Brazil This study
VWS missense 332 A>G Tyr111Cys 4 N Eur This study
VWS truncation 352 C>T Gln118X 4 NS This study
VWS truncation 352 C>T Gln118X 4 N Eur 14
VWS missense 358 C>A Gln120Lys 4 N Eur This study
VWS truncation 358 C>T Gln120X 4 N Eur This study
VWS truncation 358_368 del Gln120HisfsX 4 Thailand 23
VWS truncation 405_406 ins TT Asp135_Glu136LeufsX31 5 Germany This study
VWS truncation 427 G>T Glu143X 5 N Eur This study
VWS truncation 466 dup C His156ProfsX39 5 N Eur 14
VWS missense 470 T>G Val157Gly 5 Brazil This study
VWS truncation 494 del T Phe165SerfsX 5 N Eur This study
VWS truncation 522_525 del Ala174fsX47 6 Belgium This study
VWS truncation 558 C>A Cys186X 6 N Eur 14
VWS truncation 576 G>A Try192X 6 N Eur 14
VWS truncation 576 G>A Try192X 6 Germany This study
VWS truncation 554_579 dup Lys194AsnfsX23 6 Brazil This study
VWS missense 589 C>T Pro197Ser 6 Brazil This study
VWS truncation 610 del C Gln204ArgfsX18 6 N Eur This study
VWS truncation 610 C>T Gln204X 6 Brazil This study
VWS truncation 610 C>T Gln204X 6 N Eur This study
VWS truncation 610 C>T Gln204X 6 N Eur This study
VWS truncation 634_635 ins CCAC Ser212ThrfsX14 6 N Eur 14
PPS truncation 651 G>A Try217X 6 N Eur This study
VWS truncation 657_665 delins TA Ser219fsX1 6 N Eur 14
VWS missense 665 C>T Pro222Leu 6 N Eur This study
VWS truncation 706 G>T Glu236X 7 Brazil This study
VWS truncation 722_723 ins C Met241IlefsX19 7 Brazil This study
VWS missense 743 G>C Gly248Ala 7 N Eur This study
VWS truncation 744_748 del Gly248fsX10 7 N Eur 14
VWS missense 748 C>G Arg250Gly 7 Brazil This study
VWS missense 748 C>G Arg250Gly 7 Brazil This study
VWS missense 748 C>G Arg250Gly 7 N Eur This study
VWS truncation 748 C>T Arg250X 7 Belgium This study
VWS truncation 748 C>T Arg250X 7 N Eur This study
VWS truncation 748 C>T Arg250X 7 Belgium This study
VWS missense 749 G>A Arg250Gln 7 Brazil This study
VWS missense 749 G>A Arg250Gln 7 Brazil This study
VWS missense 749 G>A Arg250Gln 7 N Eur 14
VWS missense 749 G>A Arg250Gln 7 N Eur This study
VWS missense 749 G>A Arg250Gln 7 N Eur This study
VWS missense 755 T>C Leu251Pro 7 Belgium 21
VWS truncation 759 T>A Tyr253X 7 N Eur 14
VWS missense 775 C>T Pro258Ser 7 Belgium 21
VWS truncation 784 C>T Gln262X 7 Brazil This study
VWS truncation 795 del C Leu265fsX36 7 N Eur 14
VWS missense 803 C>T Pro268Leu 7 Brazil This study
VWS missense 818 A>G Gln273Arg 7 N Eur 14
VWS truncation 842 del A His281LeufsX20 7 N Eur 14
VWS deletion 870_897 del/ins A Phe290_Asp296delinsLeu 7 N Eur 14
VWS missense 881 T>C Leu294Pro 7 N Eur 14
VWS missense 889 G>A Val297Ile 7 N Eur 14
VWS missense 905 T>C Leu302Pro 7 Brazil This study
VWS missense 953 A>C Gln318Pro 7 N Eur This study
VWS missense 954 G>C Gln318His 7 NS This study
VWS missense 955 T>C Cys319Arg 7 N Eur This study
VWS truncation 957 C>A Cys319X 7 Brazil This study
VWS truncation 957 C>A Cys319X 7 Brazil This study
VWS missense 958 A>G Lys320Glu 7 N Eur 14
VWS missense 958 A>G Lys320Glu 7 N Eur 14
VWS missense 961 G>A Val321Met 7 Belgium This study
VWS missense 961 G>A Val321Met 7 N Eur 14
VWS missense 965 A>G Tyr322Cys 7 Brazil This study
VWS missense 974 G>A Gly325Glu 7 Belgium This study
VWS missense 974 G>A Gly325Glu 7 N Eur 14
VWS Truncation 1011_1020 del Ile337fsX22 7 Germany This study
VWS missense 1034 T>C Leu345Pro 7 N Eur 14
VWS missense 1040 G>T Cys347Phe 7 N Eur 14
VWS truncation 1087 del A Ile363X 8 N Eur This study
VWS missense 1106 T>C Phe369Ser 8 N Eur This study
VWS truncation 1107 del T Phe369LeufsX27 8 N Eur 14
VWS truncation 1116 C>G Tyr372X 8 N Eur This study
VWS missense 1118 T>C Leu373Ser 8 Brazil This study
VWS missense 1120 T>C Cys374Arg 8 Brazil This study
VWS missense 1122 C>G Cys374Try 8 N Eur 14
VWS missense 1123 T>C Phe375Leu 8 Brazil This study
VWS missense 1126 G>C Gly376Arg 8 Brazil This study
VWS missense 1126 G>C Gly376Arg 8 N Eur This study
VWS truncation 1136 G>A Try379X 8 Brazil This study
VWS truncation 1136 G>A Try379X 8 Brazil This study
VWS missense 1162 A>G Lys388Glu 8 N Eur 14
PPS truncation 1177 C>T Gln393X 8 N Eur 14
VWS missense 1190 T>C Val397Ala 9 NS This study
VWS missense 1198 C>T Arg400Try 9 Belgium This study
VWS missense 1198 C>T Arg400Try 9 Brazil This study
VWS missense 1198 C>T Arg400Try 9 Brazil This study
VWS missense 1198 C>T Arg400Try 9 Brazil This study
VWS missense 1198 C>T Arg400Try 9 Brazil This study
VWS missense 1198 C>T Arg400Try 9 Brazil This study
VWS missense 1199 G>A Arg400Gln 9 Brazil This study
VWS missense 1210 G>A Glu404Lys 9 Brazil This study
VWS missense 1212_1226 del Glu404_Gly408delAsp 9 Brazil This study
VWS truncation 1219 del T Ser407LeufsX28 9 Brazil This study
NS truncation 1234 C>T Arg412X 9 N Eur This study
NS truncation 1234 C>T Arg412X 9 N Eur This study
PPS truncation 1234 C>T Arg412X 9 N Eur This study
PPS truncation 1234 C>T Arg412X 9 N Eur This study
VWS truncation 1234 C>T Arg412X 9 Brazil This study
VWS truncation 1234 C>T Arg412X 9 Brazil This study
VWS truncation 1234 C>T Arg412X 9 Brazil This study
VWS truncation 1234 C>T Arg412X 9 Brazil This study
VWS truncation 1234 C>T Arg412X 9 Brazil This study
VWS truncation 1234 C>T Arg412X 9 NS This study
VWS truncation 1234 C>T Arg412X 9 NS This study
VWS truncation 1234 C>T Arg412X 9 N Eur This study
VWS truncation 1234 C>T Arg412X 9 N Eur 14
VWS truncation 1234 C>T Arg412X 9 N Eur This study
VWS missense 1262 T>G Leu421Arg 9 N Eur This study
VWS truncation 1264 C>T Gln422X 9 Brazil This study
VWS missense 1268 T>C Ile423Thr 9 NS This study
PPS missense 1288 G>A Asp430Asn 9 N Eur 14
PPS truncation 1291_1311 del/ins GTAGAGGCTAAACTCCCTGGAA Asn431ValfsX70 9 N Eur This study
VWS missense 1296_97 delins TT Val433Phe 9 Germany This study
VWS truncation 1303_1307 del Gln435GlufsX64 9 Brazil This study
VWS truncation 1327 del C Leu443PhefsX46 9 N Eur This study
VWS truncation 1357_1368 del QPTP Gln453fsX43 9 N Eur This study
VWS truncation 1368 dup C Ser457GlnfsX43 9 N Eur This study
VWS truncation 1369_1370 ins TGCAGCCCAT Ser457MetfsX27 9 N Eur This study
VWS truncation 1372 dup A Met458AsnfsX43 9 Brazil This study
VWS truncation 1385 del C Pro462LeufsX27 9 Brazil This study
VWS truncation 1385 dup C Pro462fsX39 9 N Eur 14
VWS truncation 1386_1387 ins C Pro462_Ala463ArgfsX38 9 N Eur This study
NS splicing -2 A>G (100%>0%) p.? IVS2 NS This study
VWS splicing -2 A>G (100%>0%) p.? IVS2 Brazil This study
VWS splicing -2 A>G (100%>0%) p.? IVS2 Brazil This study
VWS splicing -1 G>A (100%>0%) p.? IVS3 Brazil This study
VWS splicing -1 G>T (100%>0%) p.? IVS3 N Eur This study
PPS splicing 1 G>T (100%>0%) Val18_Lys58del IVS3 Belgium This study
VWS splicing 1 G>A (100%>0%) Val18_Lys58del IVS3 Belgium This study
PPS splicing 3 A>C (71%>2%) Val18_Lys58del IVS3 N Eur This study
VWS splicing -5 T>G (22%>5%) p.? IVS6 Brazil This study
VWS splicing -1 G>A (100%>0%) p.? IVS6 Brazil This study
VWS splicing -3 C>G (55%>1%) p.? IVS7 Brazil This study
VWS splicing -2 A>G (100%>0%) p.? IVS7 Brazil This study
a

In six cases, the phenotype was not specified (NS). Table does not include six cases with microdeletions of IRF6 (see text).

b

Nucleotide (nt) counted from start codon if mutation is located in an exon or counted from nearest exon if located in an intron. Reference sequences for cDNA and genomic DNA were NM_006147.2 and RP3-434o14 (Genbank AL022398), respectively.

c

All protein and exon splicing changes are deduced and not experimentally verified. Reference protein sequence is NP_006138. Frameshift mutations (fs) are predicted to add the indicated number of amino acids beyond the mutation (fsXnumber). Residues located in the DNA binding domain (yellow) or protein binding domain (green) are indicated. For splicing mutations, the values represent the change in probability of finding the indicated nucleotide at a splice junction (Zhang et al., 1998). Predicted protein for splicing mutation is based on computational analysis shown in Figure 3.

d

Exon and intron (IVS) numbering are based on ENSG00000117595 (www.ensembl.org).

e

Geographic origins of pedigrees include the indicated countries, or Northern Europe (N Eur) if proband is white, but country is not known or origins not specified (NS).