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. 2000 Dec 12;68(1):46–63. doi: 10.1086/316939

Table 4.

Summary of PKD1 Mutation Changes Identified in the Study Population

Designation Location cDNAChange(s) AminoAcidChangea Comments Pedigree(s) Reference(s)
Nonsense:
 S225X EX5 885C→A 225↓ At CpG P499 Present study
 Q227X EX5 890C→T 227↓ P408 Present study
 Q705X EX11 2324C→T 705↓ P255 Present study
 S749X EX11 2457C→G 749↓ P398 Present study
 E1537X EX15 4820G→T 1537↓ At CpG P18 Present study
 R2163X EX15 6698C→T 2163↓ C→T at CpG P126 Present study
 C2229X EX15 6898C→A 2229↓ P13, P404 Present study
 Q2243X EX15 6938C→T 2243↓ P17, P17A Present study
 C2370X EX17 7321T→A 2370↓ P7 Present study
 R2430X EX18 7499C→T 2430↓ C→T at CpG, matches HG 1, 2, and 3 P227, P344 Present study
 E3020X EX25 9269G→T 3020↓ At CpG P130 Peral et al. (1997)
 W3180X EX27 9751G→A 3180↓ P322 Present study
 Q3394X EX32 10391C→T 3394↓ P292 Present study
 Q3513X EX35 10748C→T 3513↓ P105, P187 Peral et al. (1997); present study
 Y3818X EX41 11665C→A 3818↓ At CpG P117 Peral et al. (1996a)
 Q3837X EX41 11720C→T 3837↓ P198 Peral et al. (1996b)
 R4020X EX44 12269C→T 4020↓ C→T at CpG P264 Present study
 Y4039X EX44 12328C→A 4039↓ At CpG P407 Present study
 Q4041X EX44 12332C→T 4041↓ P284 Torra et al. (1998)
 R4227X EX46 12890C→T 4227↓ C→T at CpG P3, P89, P252 Peral et al. 1996b, 1997); present study
Deletion or insertion:
 Frameshift:
  224del13 EX1 224del13 4↓ 8-bp repeat 13 bp apart P103 Present study
  2296delC EX10 2296delC 695↓ 6 × C nt P99 Present study
  2296insC EX10 2296insC 695↓ 6 × C nt P399 Present study
  4137delCT EX15 4137delCT 1308↓ P234 Present study
  4291delG EX15 4291delG 1360↓ P184 Present study
  4784delG EX15 4784delG 1524↓ P314 Present study
  5870del14 EX15 5870del14 1886↓ 7-bp repetition, 14 bp apart P236 Present study
  6937delAC EX15 6937delAC 2242↓ 2 × AC repeats P107, P224 Present study
  7205del7 EX15 7205del7 2331↓ 7-bp direct repeat P2, P216 Present study
  7211ins7 EX16 7211ins7 2333↓ 7-bp direct repeat P169, P200 Present study
  7324delGT EX17 7324delGT 2371↓ 4 × GT repeats P8 Present study
  8126ins20 EX21 8126ins20 2638↓ 9×bp repeat, 20 bp apart P118 Present study
  8657delC EX23 8657delC 2815↓ 3 × C nt P179 Peral et al. (1997)
  9299delC EX25 9299delC 3029↓ P11 Peral et al. (1997)
  IVS30del2 kb IVS30−IVS34 10262del446 3350↓ P98 European Polycystic Kidney Disease Consortium (1994)
  IVS34del5.5 kb IVS34−3′UTR 10708del to 3′UTR 3499↓ P95 European Polycystic Kidney Disease Consortium (1994)
  10947insT EX36 10947insT 3578↓ P100 Peral et al. (1996a)
  12617delC EX45 12617delC 4135↓ P491 Present study
  12739delA EX46 12739delA 4176↓ Flanked by 5 × C/3 × C P225 Peral et al. (1997)
 In frame:
  F1992L, 1993delT EX15 6187delC 1992*Δ1993 P204 Present study
  6868del15 EX15 6868del15 Δ2220–2224 13-bp repeat, 15 bp apart P14 Present study
  8507ins12 EX23 8507dup12 +2762–2765 10-bp repeat, 12 bp apart P190 Present study
  9245del18 EX25 9245del18 Δ3012–3017 Incomplete repeat (13/18), 18 bp apart P124 Present study
  11457del15 EX39 11457del15 Δ3749–3753 7-bp repeat, 15 bp apart P35 Peral et al. (1996b)
Splicing:
 Frameshift:
  IVS7+1G→A IVS7 1597del221 536↓ Skip exon 7 P1 Present study
  IVS9+1G→T IVS9 1934del127 574↓ Skip exon 9 P134 Present study
  IVS25−16G→A IVS25 9413del196 3067↓ Skip exon 26, C→T at CpG P178 Present study
  IVS31+25del9 IVS31 10378ins71 3389↓ Inclusion IVS 31, matches HG1, 12-bp repeat, 19 bp apart P229 Peral et al. (1997)
  IVS39+1G→C IVS39 11365del113 3717↓ Skip exon 39 P109 Peral et al. (1997)
 In frame:
  IVS2−2A→G IVS2 499del72 Δ97–120 Skip exon 3 P402 Present study
  IVS21−2delAG IVS21 8228del42 Δ2673–2686 Cryptic splice exon 22 P152 Present study
  IVS39−25del72 IVS39 11478del51 Δ3756–3772 5-bp repeat 67 bp apart; cryptic splice exon 40 P167 Peral et al. (1996b)
  IVS43+17del18 IVS43 11921del291 + others Δ3904–4000 + others 9-bp repeat 20 bp apart S6046 Peral et al. (1995)
  IVS43+14del20 IVS43 11921del291 + others Δ3904–4000 + others 9-bp repeat 20 bp apart P138 Peral et al. (1995)
  IVS44+1G→C IVS44 12212del135 Δ4001–4045 Skip exon 44 P4 European Polycystic Kidney Disease Consortium (1994)
Missense:
 Nonconservative:
  L13Q EX1 249T→A L13Q P285 Present study
  S75F EX2 435C→T S75F P159 Present study
  W139C EX4 628G→T W139C P267 Present study
  Y2336D EX16 7217T→G Y2336D P220 Present study
  A2752D EX23 8466C→A A2752D P135 Present study
  V2768M EX23 8513G→A V2768M C→T at CpG P442 Present study
  G2858S EX23 8783G→A G2858S C→T at CpG P442 Present study
  E2771K EX23 8522G→A E2771K C→T at CpG P148, P256, P447, P511 Present study
  L2816P EX23 8658T→C L2816P Matches HG1, 2, and 3 P228 Present study
  L2993P EX25 9189T→C L2993P P193 Peral et al. (1997)
  Q3016R EX25 9258A→G Q3016R P157 Peral et al. (1997)
 Conservative:
  L3510V EX35 10739C→G L3510V P161 Peral et al. (1997)
  E3631D EX37 11104G→C E3631D P125 Peral et al. (1996b)
a

↓ = Frameshift after indicated residue; Δ = deletion of indicated residues (inclusive); + = duplication of indicated residues (inclusive).