Alvelos et al. A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update.
Supplementary Table 1. Summary of HNF1B germline mutations.
Mutation a Codon Predicted
Effect b
Nº of Affected Families
Reference Exon 1
c.3G>T 1 ms, M1? 2 1
c.18delG 6 fs 1 2
c.46delC 16 fs 1 3
c.107C>T 36 ms, S36F 2 4
c.110dupC 38 fs 1 This study
c.143delT 48 fs 1 5
c.182T>G c 61 ms, V61G 2 6,7
c.206_207delAC 69 fs 1 8
c.211_217delAAGGGCC 71-73 fs 1 1
c.226G>T 76 ms, G76C 3 3,5
c.232G>T 78 ns, E78X 2 1
c.281_284dupAGCT 94-95 fs 1 9
c.322delG 108 fs 1 1
c.301G>T 101 ns, E101X 1 10
c.329T>G d 110 ms, V110G 1 6
c.335_342delGGATGCTC 112-114 fs 1 11
c.335G>C 112 ms, R112P 2 5,12
Intron 1
c.345-1G>A sp 2 1
Exon 2
c.353delC l 118 fs 1 13
c.374T>C 125 ms, I125T 1 14
c.395A>C 132 ms, H132P 1 15
c.398A>G 133 ms, N133S 1 16
c.406C>T 136 ns, Q136X 2 3,5
c.406C>G 136 ms, Q136E 2 5,12
c.410_484del75 m 137-161 if 1 17
c.439C>T 147 ns, Q147X 1 18
c.443C>T e 148 ms, S148L 6 6,19-23
c.443C>G 148 ms, S148W 1 24
c.451T>C 151 ms, S151P 1 25
c.452C>G 151 ms, S151C 1 1
c.457C>A 153 ms, H153N 1 26
c.466A>G f 156 ms, K156E 1 6
c.476C>T 159 ms, P159L 1 1
c.477delT 159 fs 1 10
c.478A>G 160 ms, M160V 1 27
c.487delC 163 fs 1 28
c.490A>C 164 ms, K164Q 2 5,12
c.494G>A 165 ms, R165H 4 5,12,29
c.494G>C 165 ms, R165P 1 1
c.499_504delinsCCCCT 167-168 indel 1 30
c.513G>A 171 ns, W171X 1 1
c.517G>A 173 ms, V173I 1 14
Mutation a Codon Predicted Effect b
Nº of Affected Families
Reference
c.526C>T 176 ns, Q176X 1 6
c.529C>T 177 ns, R177X 3 18,31,32
c.534delG 178 fs 1 3
c.541C>T 181 ns, R181X 4 5,6,12,22
c.544C>T 182 ns, Q182X 5 1,5,12
Intron 2
c.544+1G>A sp 2 6,33
c.544+1G>C sp 1 3
c.544+1G>T sp 3 12,23,34
c.544+2_544+3dupT sp 1 35
c.544+3_544+6delAAGT sp 5 1,6,36
Exon 3
c.662A>T 221 ms, D221V 1 29
c.698G>A 233 ms, R233H 1 14
c.704G>A 235 ms, R235Q 2 5,14
c.715G>C 239 ms, G239R 1 37
c.717delG n 239 fs 1 1
c.717dupG 240 fs 1 28
c.721G>A 241 ms, A241T 1 38
c.727delC 243 fs 1 25
c.728 A>C 243 ms, Q243P 1 23
c.758A>C 253 ms, Q253P 2 1,39
c.766C>T 256 ms, P256S 1 1
c.780G>C 260 ms, E260D 2 29,40
c.787_788dupGG 263 fs 1 41
c.791T>C 264 ms, L264S 1 42
Intron 3
c.809+1G>A sp 1 1
c.810-2A>C sp 1 43
Exon 4
c.810_1045del236 270-349 fs 3 1,3,39
c.818G>A 273 ms, C273Y 1 44
c.827G>A g 276 ms, R276Q 2 6,45
c.826C>T 276 ns, R276X 2 46,47
c.826C>G 276 ms, R276G 1 5
c.840delC 280 fs 2 1,28
c.840dupC h 281 fs 1 6
c.854G>A 285 ms, G285D 2 5,48
c.856C>G 286 ms, L286V 1 49
c.860G>T 287 ms, G287V 1 50
c.865A>G 289 ms, N289D 1 49
c.883C>T 295 ms, R295C 2 5,27
c.884G>A 295 ms, R295H 2 5,12
c.884G>C i 295 ms, R295P 1 6
Mutation a Codon Predicted Effect b
Nº of Affected Families
Reference
c.906C>A o 302 ms, N302K 1 1
c.931C>T 311 ns, Q311X 1 3
c.949delG 317 fs 1 28
c.972_973delCA j 324-325 fs 1 6
c.982_986delCCTCT 328-329 fs 1 51
c.983delC 328 fs 1 16
c.1006dupC p 336 fs 1 52
c.1006C>G 336 ms, H336D 3 44,53
Intron 4
c.1046-294_1206+704 delins55
indel 1 5
c.1046-2A>G sp 1 44
Exon 5
c.1055dupA 352 fs 2 22,54
c.1108G>A 370 ms, G370S 1 5
c.1118_1147del29 373-383 fs 1 55
c.1136C>A 379 ns, S379X 1 1
Exon 6
n/d q n/d fs 1 56
Intron 6
c.1339+1G>A sp 1 39
Exon 7
c.1360C>T 454 ns, Q454X 1 1
c.1363_1364delAG r 455 fs 2 1,18
c.1395C>G 465 ms, S465R 2 47
c.1408C>T k 470 ns, Q470X 1 6
c.1406_1413dupTGCAGCCC 472-475 fs 1 11
c.1474G>A 492 ms, G492S 4 38
Exon 8
c.1561dupC 521 fs 1 50
Whole gene or multi-exon deletions
85 2,3,5,15,22,28,39,44,57-
72
a Mutations are numbered according to the HNF1B cDNA reference sequence (GenBank NM_000458.2), where the nucleotide +1 corresponds to the A of the ATG initiation codon. The mutation numbering and nomenclature was changed whenever necessary to follow standard recommendations 73.
b Predicted effect: fs, frameshift mutation; if, in-frame deletion or insertion; indel, insertion and deletion; ms, missense mutation; ns, nonsense mutation; sp, splice site mutation.
c-k Nucleotide number modified from original report to comply with cDNA reference sequence.
Original designations were: c c.376T>G; d c.523T>G; e c.637C>T; f c.660A>G; g c.1021G>A;
hc.1034_1035delC; i c.1078G>C; j c.1166_1167delCA; k c.1602C>T.
l-q Discordant nucleotide/codon number in the original report. Original designations were: l c.535delC; m c.409_483del75; n codon 242; o codon 766; p codon 334; q n/d, not determined due to discrepancy between nucleotide number and base change; r codon 454.
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