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TSC2 Variations +19 ATG, 8/8/99

indep conf exon official id type nuc change aa change effect mut/poly status method used to determined mut/poly status reference index inheritance   region linked to detection method patient id comments
  1 TSC2-47 point 52A>T 12K>X nonsense mutation   13 familial       T3770 small family
  intron 1 TSC2-13 point 156+1G>A   splicing mutation   6 sporadic       1751 parents not available for testing
c intron 1 TSC2-13 point 156+1G>A   splicing mutation   21 sporadic     SSCP 1751S  
  intron 1 TSC2-121 point 156+1G>A   splicing mutation   24 familial     SSCP F12-01  
  intron 1 TSC2-151 point 156+1G>A   splicing mutation   25 familial     ASO,SSCP T1328 mosaic
  3 TSC2-74 point 273C>T 85V silent polymorphism   21 unknown       unknown published as 273T>C, Val85; nucleotides transposed
  3 TSC2-75 point 298C>A 94P>T missense polymorphism   21 unknown       unknown observed in unaffected controls, reported as 298A>C,Thr94Pro, nucleotides transposed
  3 TSC2-76 point 327T>G 103A silent polymorphism   21 unknown       unknown  
  4 TSC2-152 point 483C>G 155Y>X nonsense mutation   20 unknown     HD,SSCP 341  
  4 TSC2-153 insertion 485-489insNNNNN 156L-FS-X in 3'UTR frameshift mutation   20 unknown     HD,SSCP 291  
  4 TSC2-154 point 496C>G 160L>V missense polymorphism   20 unknown     HD,SSCP group  
  intron 4 TSC2-155 complex [500-7C>A;500-6C>A] complex change   polymorphism   20 unknown     HD,SSCP group  
  intron 4 TSC2-156 point 500-3C>T   non-coding polymorphism   20 unknown     HD,SSCP group 5-10%
  5 TSC2-99 deletion 505-506delTT 163F-FS-X early at 187 frameshift mutation   23 unknown     SSCP TS94-35  
  5 TSC2-157 deletion 546delC 176F-FS-X early at 181 frameshift mutation   20 unknown     HD,SSCP 46  
  7 TSC2-77 point 698G>A 227C>Y missense mutation   21 sporadic     REF 1512S not seen in any controls
  7 TSC2-122 point 747C>G 243L silent polymorphism   24 unknown     SSCP unknown published as 730C>G, off by one, freq 0.013
  intron 7 TSC2-158 point 793-1G>A   splicing mutation   20 unknown     HD,SSCP 246  
  8 TSC2-159 point 799C>T 261R>W missense polymorphism   20 unknown     HD,SSCP group unique
  8 TSC2-100 insertion 849insC 277C-FS-X early at 337 frameshift mutation   23 unknown     SSCP TS92-05  
  9 TSC2-160 point 874A>G 286M>V missense polymorphism   20 unknown     HD,SSCP group <5%
  9 TSC2-48 point 889C>T 291L silent polymorphism   14 unknown     SSCP group 1/60 chroms
  9 TSC2-101 point 893T>C 292L>P missense mutation   23 unknown     SSCP TS94-02  
  9 TSC2-161 point 899G>A 294G>E missense mutation   20 familial     HD,SSCP 278  
  9 TSC2-102 insertion 918-932insATGGCTCTCTGGGGA 300insMALWG in-frame insertion mutation   23 unknown     SSCP TS91-03 15bp duplication flanked by 2 short direct repeats of TGGG
  intron 9 TSC2-123 point 994-1G>A   splicing mutation   24 familial     SSCP F11-01 listed as exon 10, should be intron 9
  10 TSC2-78 point 1011C>A 331N>K missense mutation   21 sporadic       1909S not seen in any controls
  10 TSC2-79 point 1047C>T 343T silent polymorphism   21 unknown       unknown  
  10 TSC2-162 deletion 1111-1113delATC 365delI in-frame deletion mutation   20 sporadic     HD,SSCP 60  
  10 TSC2-49 deletion 1112-1113delTC 365I-FS-X early at 385 frameshift mutation   14 sporadic     SSCP TSC-086  
  10 TSC2-163 point 1118G>A 367R>Q missense polymorphism   20 unknown     HD,SSCP group <5%
  10 TSC2-80 point 1128G>A 370Q silent polymorphism   21 unknown       unknown published as 1128A>G, Gln370 (nucleotides transposed)
  10 TSC2-38 point 1128G>A 370Q silent polymorphism   10 unknown       unknown paper reports it as CAA >CAG, Q320, exon 10; so this is the most likely spot
  10 TSC2-164 point 1128G>A 370Q silent polymorphism   20 unknown     HD,SSCP group <5%, reported transposed as 1128A>G
  11 TSC2-165 point 1151C>T 378P>L missense polymorphism   20 unknown     HD,SSCP group unique
  11 TSC2-39 deletion 1160-1191delGGACCATCGTCCATGACCTGTTGACCACGGTG 381R-FS-X early at 385 frameshift mutation   10 sporadic     PTT 4 creates new NciI site; results in the mutant exon 11 being spliced out to maintain exp of TSC2
  11 TSC2-124 point 1161G>A 381R silent polymorphism   24 unknown     SSCP unknown published as 1144G>A (off by one), freq 0.013
  11 TSC2-125 deletion 1178-1185delTGTTGACC 387L-FS-X early at 393 frameshift mutation   24 sporadic     SSCP S11-01 reported to stop early at 396, should be 393
  11 TSC2-126 point 1237T>G 407Y>D missense mutation   24 sporadic     SSCP S13-01  
  intron 11 TSC2-166 point 1275+2T>C   splicing mutation   20 unknown     HD,SSCP 24  
  12 TSC2-63 point 1294C>T 426L silent polymorphism   17 unknown       unknown rare variant
  12 TSC2-64 point 1299C>A 427I silent polymorphism   17 unknown       unknown rare variant
  12 TSC2-167 point 1336G>A 440G>S missense polymorphism   20 unknown     HD,SSCP group  
  12 TSC2-50 point 1365G>C 449M>I missense mutation   14 familial linked chr16 SSCP TSC-028  
  12 TSC2-127 point 1365G>C 449M>I missense polymorphism   24 unknown     SSCP unknown reported by Wilson et al. as mutation, freq 0.013
  12 TSC2-129 point 1366G>T 450E>X nonsense mutation   24 familial     SSCP F16-01  
  12 TSC2-128 point 1366G>T 450E>X nonsense mutation   24 familial     SSCP F17-01  
  13 TSC2-70 point 1390C>T 458R>X nonsense mutation   19 familial       HOU-34 germ-line mosaicism, reported +1
  13 TSC2-168 point 1395C>T 459G silent polymorphism   20 unknown     HD,SSCP group unique
  13 TSC2-169 point 1405A>G 463I>V missense polymorphism   20 unknown     HD,SSCP group unique
  intron 13 TSC2-3 point 1462-2A>T   splicing mutation 33bp deletion in RNA deletes aa 482-492 3 familial       unknown  
  intron 13 TSC2-4 point 1462-1G>T   splicing mutation 33bp deletion in RNA deletes aa 482-492 3 familial       unknown  
  intron 13 TSC2-170 point 1462-1G>A   splicing mutation   20 unknown     HD,SSCP 255  
  14 TSC2-81 point 1475A>T 486N>I missense mutation   21 sporadic     SSCP 1513S not seen in controls
  14 TSC2-82 point 1486A>G 490I>V missense polymorphism observed in unaffected control 21 unknown       unknown  
  14 TSC2-171 deletion 1506delC 496I-FS-X early at 534 frameshift mutation   20 unknown     HD,SSCP 366  
  14 TSC2-51 point 1531C>T 505R>X nonsense mutation   14 unknown     SSCP TSC-037 small family
  14 TSC2-103 point 1531C>T 505R>X nonsense mutation   23 unknown     SSCP TS94-96  
  14 TSC2-172 point 1531C>T 505R>X nonsense mutation   20 unknown     HD,SSCP 100  
  14 TSC2-173 point 1531C>T 505R>X nonsense mutation   20 unknown     HD,SSCP 159  
  14 TSC2-174 point 1531C>T 505R>X nonsense mutation   20 unknown     HD,SSCP 173  
  14 TSC2-104 deletion 1595-1598delGCCT 526S-FS-X early at 533 frameshift mutation   23 unknown     SSCP TS87-144  
  14 TSC2-65 point 1596C>T 526S silent polymorphism   17 unknown       unknown  
  14 TSC2-52 point 1596C>T 526S silent polymorphism   14 unknown     SSCP group 1/60 chroms
  14 TSC2-5 point 1596C>T 526S silent polymorphism   3 unknown       unknown 24/163 people (15%)
  14 TSC2-40 point 1596C>T 526S silent polymorphism   10 unknown       unknown  
  intron 14 TSC2-130 point 1617+16C>T   non-coding polymorphism   24 unknown     SSCP unknown reported as 1600+15C>T (off by one), freq 0.063
  intron 14 TSC2-175 point 1618-39C>T   non-coding polymorphism   20 unknown     HD,SSCP group 5-10%
  intron 14 TSC2-176 point 1618-14C>T   non-coding polymorphism   20 unknown     HD,SSCP group 5-10%
  15 TSC2-83 point 1625C>T 536A>V missense polymorphism observed in unaffected control 21 unknown       unknown  
  15 TSC2-41 point 1629C>T 537R silent polymorphism   10 unknown       unknown  
  15 TSC2-42 deletion 1634delT 539L-FS-X early at 560 frameshift mutation   10 sporadic     PTT 3  
  intron 15 TSC2-177 point 1735-16C>T   non-coding polymorphism   20 unknown       group unique
  16 TSC2-178 point 1765G>A 583A>T missense polymorphism   20 unknown     HD,SSCP group  
  16 TSC2-179 point 1812C>G 598Y>X nonsense mutation   20 unknown     HD,SSCP 17  
  16 TSC2-180 deletion 1813delA 599K-FS-X early at 697 frameshift mutation   20 unknown     HD,SSCP 289  
  16 TSC2-71 point 1849C>T 611R>W missense mutation   19 familial       HOU-37 germ-line mosaicism, reported +1
  16 TSC2-53 point 1849C>T 611R>W missense mutation   14 unknown     SSCP TSC-382 small family
  16 TSC2-181 point 1849C>T 611R>W missense mutation   20 unknown     HD,SSCP 98  
  16 TSC2-182 point 1849C>T 611R>W missense mutation   20 unknown     HD,SSCP 208  
  16 TSC2-183 point 1849C>T 611R>W missense mutation   20 sporadic     HD,SSCP 217  
  16 TSC2-131 point 1850G>A 611R>Q missense mutation   24 familial     SSCP F03-01 mother possibly somatic mosaic, results in elimination of MspI site
  16 TSC2-106 point 1850G>A 611R>Q missense mutation   23 unknown     SSCP TS93-29  
  16 TSC2-105 point 1850G>A 611R>Q missense mutation   23 unknown     SSCP TS94-31  
  16 TSC2-184 point 1850G>A 611R>Q missense mutation   20 sporadic     HD,SSCP 32  
  16 TSC2-185 point 1850G>A 611R>Q missense mutation   20 unknown     HD,SSCP 123  
  16 TSC2-186 point 1850G>A 611R>Q missense mutation   20 unknown     HD,SSCP 102  
  16 TSC2-187 point 1850G>A 611R>Q missense mutation   20 unknown     HD,SSCP 353  
  17 TSC2-188 point 1859C>A 614A>D missense mutation   20 sporadic     HD,SSCP 275  
  17 TSC2-84 point 1862T>C 615F>S missense polymorphism observed in unaffected controls 21 unknown       unknown  
  17 TSC2-85 point 1878G>A 620L silent polymorphism   21 unknown       unknown  
  18 TSC2-189 deletion 1993-1999delACCAGCG 659T-FS-X early at 695 frameshift mutation   20 unknown     HD,SSCP 222  
  18 TSC2-190 deletion 2042-2060delCAGGCCCCGCCGTGCGGCT 675A-FS-X early at 691 frameshift mutation   20 unknown     HD,SSCP 90  
  18 TSC2-191 point 2049C>T 677P silent polymorphism   20 unknown     HD,SSCP group unique
  18 TSC2-62 insertion 2077-2080insTACT 687S-FS-X early at 703 frameshift mutation   15 familial       unknown 3 affected children from a sibship of 9, maternal germline mosaic
  18 TSC2-107 deletion 2088delC 690F-FS-X early at 697 frameshift mutation   23 unknown     SSCP TS94-104  
  18 TSC2-192 deletion 2092delG 692V-FS-X early at 697 frameshift mutation   0 unknown     HD,SSCP 81  
  18 TSC2-193 point 2105G>A 696C>Y missense mutation   20 unknown     HD,SSCP 253  
  intron 18 TSC2-194 point 2115+35G>A   non-coding polymorphism   20 unknown     HD,SSCP group unique
  19 TSC2-195 point 2127G>A 703W>X nonsense mutation   20 unknown     HD,SSCP 310  
  19 TSC2-196 deletion 2160-2175delTGAGTCCCTGCGCTAT 714P-FS-X early at 765 frameshift mutation   20 unknown     HD,SSCP 86  
  20 TSC2-197 point 2269C>T 751R>X nonsense mutation   20 unknown     HD,SSCP 6  
  20 TSC2-198 point 2269C>T 751R>X nonsense mutation   20 unknown     HD,SSCP 54  
  20 TSC2-199 point 2269C>T 751R>X nonsense mutation   20 unknown     HD,SSCP 245  
  20 TSC2-200 insertion 2313-2314insCC 765A-FS-X early at 771 frameshift mutation   20 unknown     HD,SSCP 238  
  intron 20 TSC2-201 point 2373+2T>C   splicing mutation   20 unknown     HD,SSCP 142  
  intron 20 TSC2-202 deletion 2373+2-2373+5delTAGG   deletion through splice mutation   20 unknown     HD,SSCP 134  
  intron 20 TSC2-203 point 2374-2A>C   splicing mutation   25 familial     ASO,SSCP T5477  
  21 TSC2-204 point 2388C>G 790Y>X nonsense mutation   20 unknown     HD,SSCP 158  
  21 TSC2-86 point 2465C>T 816P>L missense unknown   21 sporadic     SSCP 1125S A different missense (Arg1329His) also seen in exon 32 of this same patient
  21 TSC2-132 point 2494C>A 826L>M missense mutation   24 sporadic     SSCP S19-01 reported as 825L>M (off by one)
  21 TSC2-108 insertion 2508-2509insAT 830L-FS-X early at 894 frameshift mutation   23 unknown     SSCP TS94-82 stop reported as 948, should be 894
  21 TSC2-205 deletion 2548delC 844L-FS-X early at 893 frameshift mutation   20 unknown     HD,SSCP 235  
  22 TSC2-54 point 2598T>C 860F silent polymorphism   14 unknown     SSCP group 1/60 chroms
  22 TSC2-133 point 2608C>T 864Q>X nonsense mutation   24 sporadic     SSCP S04-01  
  22 TSC2-55 point 2637G>T 873L silent polymorphism   14 unknown     SSCP group 1/60 chroms
  22 TSC2-72 deletion 2656-2657+1delAAG   deletion through splice site mutation   19 familial     SSCP HOU-33 Nomenclature makes it difficult to determine if this is correct or not, listed as 2638delA Ag+, K880FS-X909
  intron 22 TSC2-206 point 2657+44C>G   non-coding polymorphism   20 unknown     HD,SSCP group <5%
  23 TSC2-109 point 2679T>A 887C>X nonsense mutation   23 unknown     SSCP TS94-86  
  23 TSC2-43 point 2715G>T 899R>S missense mutation   10 familial linked chr16 PTT 7 cryptic splice site created, exon 25 truncated by 23bp
  23 TSC2-110 point 2731C>T 905R>W missense mutation   23 unknown     SSCP TS95-12  
  23 TSC2-207 point 2731C>T 905R>W missense mutation   20 sporadic     HD,SSCP 362 possible germline mosaic
  23 TSC2-134 point 2732G>A 905R>Q missense mutation   24 familial     SSCP F08-01  
  24 TSC2-111 insertion 2797insC 927T-FS-X early at 939 frameshift mutation   23 familial     SSCP HOU-23 reported off by one as 928ProFS->939X
c 24 TSC2-111 insertion 2797insC 927T-FS-X early at 939 frameshift mutation   19 familial     ASO,SSCP HOU-23 female germline mosaicism
  24 TSC2-135 deletion 2802delC 928P-FS-X early at 947 frameshift mutation   24 familial     SSCP F14-01 reported as Phe927fs->947X, off by one
  24 TSC2-136 deletion 2832-2833delTA 938T-FS-X early at 958 frameshift mutation   24 familial     SSCP F04-01 reported as Thr938fs->959X, off by one
  intron 24 TSC2-208 point 2855+1G>T   splicing mutation   20 unknown     HD,SSCP 317  
  26 TSC2-137 point 2992C>T 992Q>X nonsense mutation   24 sporadic     SSCP S17-01  
  26 TSC2-87 point 3036C>T 1006N silent polymorphism   21 unknown       unknown  
  26 TSC2-88 insertion 3133-3136insTCCA 1039T-FS-X early at 1168 frameshift mutation   21 sporadic     SSCP 1704S  
  27 TSC2-112 point 3270C>G 1084D>E missense mutation   23 unknown     SSCP TS87-117  
  27 TSC2-138 point 3283C>T 1089Q>X nonsense mutation   24 sporadic     SSCP S01-01  
  28 TSC2-209 deletion 3414delG 1132S-FS-X early at 1190 frameshift mutation   20 unknown     HD,SSCP 197  
  29 TSC2-89 point 3448G>T 1144V>L missense unknown   21 familial     SSCP 431F patient has another missense mutation in exon 42 His1773Pro
  29 TSC2-210 point 3460C>T 1148Q>X nonsense mutation   20 unknown     HD,SSCP 119  
  29 TSC2-211 point 3592C>T 1192Q>X nonsense mutation   20 unknown     HD,SSCP 166  
  29 TSC2-212 point 3592C>T 1192Q>X nonsense mutation   20 unknown     HD,SSCP 233  
  29 TSC2-56 point 3616C>T 1200R>W missense mutation   14 familial linked chr16 SSCP TSC-001 Published as Arg1199Trp (off by one)
  29 TSC2-113 point 3616C>T 1200R>W missense mutation   23 unknown     SSCP HOU11  
  30 TSC2-114 insertion 3629-1insGGAACACCAGCTGGCTG 1204G-FS-X early at 1215 frameshift mutation   23 unknown     SSCP TS93-41 17bp tandem duplication , no repeat sequences flanking the duplication were observed
  30 TSC2-66 deletion 3671-3678delCTTTCTCC 1218P-FS-X early at 1230 frameshift mutation   17 sporadic     SSCP T1206  
  30 TSC2-67 point 3680C>A 1221S>X nonsense mutation   17 sporadic     SSCP unknown
  30 TSC2-213 insertion 3691-3695insNNNNN 1225N-FS-X in 3'UTR frameshift mutation   20 unknown     HD,SSCP 15  
  30 TSC2-214 deletion 3713delC 1232S-FS-X early at 1324 frameshift mutation   20 unknown     HD,SSCP 377  
  intron 31 TSC2-215 point 3901+78G>A   non-coding polymorphism   20 unknown     HD,SSCP group 5-10%
  intron 31 TSC2-216 point 3902-55A>T   non-coding polymorphism   20 unknown     HD,SSCP group unique
  intron 31 TSC2-217 point 3902-51C>G   non-coding polymorphism   20 unknown     HD,SSCP group  
  32 TSC2-90 point 3931C>T 1305P>S missense unknown   21 familial     SSCP 1085F reported as 3862C>T, Pro1292Ser (without exon 31b), in it's own numbering should be P1282S
  32 TSC2-91 point 3933G>A 1305P silent polymorphism   21 unknown       unknown reported without exon 31b as 3864G>A, Pro1282
  32 TSC2-115 point 3974A>T 1319D>V missense mutation   23 unknown     SSCP TS93-44 reported without exon 31b
  32 TSC2-92 point 4004G>A 1329R>H missense unknown   21 sporadic     SSCP 1125S same patient also has missense variation 2465C>T, Pro816Leu exon 32, note reported without exon31b, as 3935G>A; R1306H
  33 TSC2-73 point 4273C>T 1419Q>X nonsense mutation   19 familial       HOU-28 germ-line mosaicism, repoted wihtout exon 31b as 33b C4186T Q1396X
  33 TSC2-218 point 4273C>T 1419Q>X nonsense mutation   20 unknown     HD,SSCP 186  
  33 TSC2-219 point 4316C>A 1433S>X nonsense mutation   20 unknown     HD,SSCP 1  
  33 TSC2-220 point 4326C>T 1436D silent polymorphism   20 unknown     HD,SSCP group unique
  33 TSC2-221 point 4393C>T 1459R>X nonsense mutation   20 unknown     HD,SSCP 27  
  33 TSC2-222 point 4393C>T 1459R>X nonsense mutation   20 unknown     HD,SSCP 40  
  33 TSC2-223 point 4393C>T 1459R>X nonsense mutation   20 unknown     HD,SSCP 240  
  33 TSC2-224 point 4508C>G 1497P>R missense mutation   20 sporadic     HD,SSCP 220  
  33 TSC2-225 point 4511G>A 1498S>N missense mutation   20 sporadic     HD,SSCP 211  
  34 TSC2-16 insertion 4512insC 1498S-FS-X early at 1523 frameshift mutation   8 sporadic     SSCP 373  
c 34 TSC2-16 insertion 4512insC 1498S-FS-X early at 1523 frameshift mutation   20 sporadic     HD,SSCP 373  
  34 TSC2-226 deletion 4542-4544delCTT 1509delF in-frame deletion polymorphism   26 unknown       group maybe should be shifted over one to agree with other polymorhpism reports?
  34 TSC2-57 deletion 4543-4545delTTC 1509delF in-frame deletion polymorphism originally reported as mutation, found by Maheshwar et al 1997 as polymorphism 14 sporadic     SSCP TSC-077 published without exon 31b as 4474 to 4476
  34 TSC2-17 deletion 4543-4545delTTC 1509delF in-frame deletion polymorphism   8 unknown     SSCP group 2/173; also seen in 5 unaffected members of a TSC family
  34 TSC2-139 deletion 4543-4545delTTC 1509delF in-frame deletion polymorphism   24 unknown     SSCP unknown 0.025
  34 TSC2-18 point 4554C>T 1512D silent polymorphism   8 unknown     SSCP group 1/173
  34 TSC2-140 point 4554C>T 1512D silent polymorphism   24 unknown     SSCP unknown freq 0.013
  34 TSC2-227 point 4554C>T 1512D silent polymorphism   26 unknown       group  
  34 TSC2-19 deletion 4559-4562delCAAA 1514S-FS-X early at 1574 frameshift mutation   8 unknown     SSCP 147  
c 34 TSC2-19 deletion 4559-4562delCAAA 1514S-FS-X early at 1574 frameshift mutation   20 unknown     HD,SSCP 147  
  34 TSC2-116 deletion 4562-4565delACAA 1515N-FS-X early at 1574 frameshift mutation   23 unknown     SSCP TS93-20 reported without exon 31b
  35 TSC2-58 insertion 4588-1insTCACAGTCCTTTGAGCGGTCGGTGCAGCT 1524S-FS-X early at 1585 frameshift mutation   14 unknown     SSCP TSC-422 29bp tandem duplication, reported without exon31b as 4519-4547
  35 TSC2-20 deletion 4594-4600delTCCTTTG 1526S-FS-X early at 1573 frameshift mutation   8 unknown     SSCP 234  
c 35 TSC2-20 deletion 4594-4600delTCCTTTG 1526S-FS-X early at 1573 frameshift mutation   20 unknown     HD,SSCP 234  
  35 TSC2-21 deletion 4609delG 1531V-FS-X early at 1575 frameshift mutation   8 sporadic     SSCP 93  
c 35 TSC2-21 deletion 4609delG 1531V-FS-X early at 1575 frameshift mutation   20 sporadic     HD,SSCP 93  
  35 TSC2-11 deletion 4659delC 1547V-FS-X early at 1575 frameshift mutation   5 familial linked chr16 LOD1.61   427 reported without exon 31b
c 35 TSC2-11 deletion 4659delC 1547V-FS-X early at 1575 frameshift mutation   21 familial     PTT,SSCP 427F could be this C or the C to the right
  35 TSC2-117 point 4664A>G 1549Y>C missense mutation   23 unknown     SSCP TS92-08 reported without exon 31b
  intron 35 TSC2-22 point 4680+17G>A   non-coding polymorphism   8 unknown     SSCP group 1/173
  intron 35 TSC2-23 point 4680+18G>A   non-coding polymorphism   8 unknown     SSCP group 1/173
  intron 35 TSC2-24 point 4680+41G>C   non-coding polymorphism   8 unknown     SSCP group 1/173
  intron 35 TSC2-228 point 4681-43G>A   non-coding polymorphism   20 unknown     HD,SSCP group unique
  36 TSC2-44 deletion 4681-4682delAG 1555S-FS-X early at 1564 frameshift mutation   10 sporadic     PTT 6  
  36 TSC2-25 point 4707C>T 1563S silent polymorphism   8 unknown     SSCP group 1/173
  36 TSC2-26 point 4731C>G 1571Y>X nonsense mutation   8 unknown     SSCP 230  
c 36 TSC2-26 point 4731C>G 1571Y>X nonsense mutation   20 unknown     HD,SSCP 230  
  36 TSC2-27 point 4798C>A 1594L>M missense mutation   8 sporadic     SSCP 306  
c 36 TSC2-27 point 4798C>A 1594L>M missense mutation   20 sporadic     HD,SSCP 306  
  36 TSC2-118 deletion 4857-4859delCAT 1614delI in-frame deletion mutation   23 unknown     SSCP TS93-14 reported without exon 31b
  37 TSC2-28 point 4929G>A 1637K silent polymorphism   8 unknown     SSCP group 1/173
  37 TSC2-229 point 4929G>A 1637K silent polymorphism   26 unknown       group unique
  37 TSC2-119 point 4946A>T 1643N>I missense mutation   23 unknown     SSCP TS94-53 reported without exon 31b
  37 TSC2-29 point 4947C>G 1643N>K missense mutation   8 sporadic     SSCP 367 creates EcoNI site
c 37 TSC2-29 point 4947C>G 1643N>K missense mutation   20 sporadic     HD,SSCP 367  
  37 TSC2-69 deletion 4951-4952delTT 1645F-FS-X early at 1651 frameshift mutation   18 familial     SSCP T5207 published without exon 31b as 4882delTT
  37 TSC2-68 deletion 4951-4952delTT 1645F-FS-X early at 1651 frameshift mutation   18 sporadic     SSCP T1327 published without exon 31b as 4882delTT
  37 TSC2-141 point 4967A>G 1650Y>C missense mutation   24 sporadic     SSCP S16-01  
  37 TSC2-30 point 4970A>G 1651N>S missense mutation   8 sporadic     SSCP 276 sporadic in proband, passed to 2 affected sons
c 37 TSC2-30 point 4970A>G 1651N>S missense mutation   20 sporadic     HD,SSCP 276  
  37 TSC2-93 point 4977C>T 1653S silent polymorphism   21 unknown       unknown published without exon 31b
  37 TSC2-31 point 4977C>T 1653S silent polymorphism   8 unknown     SSCP group 4/173
  37 TSC2-142 point 4977C>T 1653S silent polymorphism   24 unknown     SSCP unknown freq 0.013
  37 TSC2-230 point 4977C>T 1653S silent polymorphism   26 unknown       group <5%
  37 TSC2-94 point 5001C>T 1661T silent polymorphism   21 unknown       unknown  
  intron 37 TSC2-45 insertion 5007+2insA   insertion in conserved splice region mutation   10 sporadic     PTT 1 uses cryptic splice site in normal sequence, exon 37 truncated by 29 bp
  38 TSC2-32 point 5011C>T 1665Q>X nonsense mutation   8 sporadic     SSCP 36 also had mutation at 4947
c 38 TSC2-32 point 5011C>T 1665Q>X nonsense mutation   20 sporadic     HD,SSCP 36  
  38 TSC2-36 point 5042C>T 1675P>L missense mutation   8 sporadic     SSCP 302 Abolishes a AciI site
c 38 TSC2-36 point 5042C>T 1675P>L missense mutation   20 sporadic     HD,SSCP 302  
  38 TSC2-35 point 5042C>T 1675P>L missense mutation   8 unknown     SSCP 247 Abolishes a AciI site; segregates with affecteds and not present in 124 control chromosomes
c 38 TSC2-35 point 5042C>T 1675P>L missense mutation   20 unknown     HD,SSCP 247  
  38 TSC2-34 point 5042C>T 1675P>L missense mutation   8 unknown     SSCP 84 Abolishes a AciI site
c 38 TSC2-34 point 5042C>T 1675P>L missense mutation   20 unknown     HD,SSCP 84  
  38 TSC2-33 point 5042C>T 1675P>L missense mutation   8 unknown     SSCP 241 Abolishes a AciI site
c 38 TSC2-33 point 5042C>T 1675P>L missense mutation   20 unknown     HD,SSCP 241  
  38 TSC2-143 deletion 5043delG 1675P-FS-X in 3'UTR frameshift mutation   24 familial     SSCP F10-01  
  38 TSC2-37 point 5061C>G 1681N>K missense mutation   8 sporadic     SSCP 223  
c 38 TSC2-37 point 5061C>G 1681N>K missense mutation   20 sporadic     HD,SSCP 223  
  38 TSC2-144 deletion 5069-5086+16delCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG   deletion through splice site mutation   24 familial     SSCP S12 originally thought to be sporadic family, but same deletion found in father, results in insertion of 24 novel amino acids in RNA due to splicing defect
  38 TSC2-243 deletion 5069-5086+16delCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG   deletion through splice site mutation   20 unknown     HD,SSCP 112  
  38 TSC2-145 point 5086G>T 1690D>Y missense mutation   24 familial     SSCP F19-01  
  intron 38 TSC2-6 point 5087-2A>G   splicing mutation   4 sporadic       unknown  
c intron 38 TSC2-6 point 5087-2A>G   splicing mutation   20 sporadic     HD,SSCP 248  
  39 TSC2-146 deletion 5096-5099delGCCT 1693G-FS-X in 3'UTR frameshift mutation   24 sporadic     SSCP S14-01  
  39 TSC2-95 point 5144C>T 1709P>L missense unknown   21 sporadic     SSCP 1671S reported wihtout exon 31b as 5075C>T
  39 TSC2-59 point 5144C>T 1709P>L missense mutation   14 sporadic     SSCP unknown published without exon 31b as 5075C>T, Pro1186 Leu, seems to be a misprint and should be P1686L
  39 TSC2-60 point 5153C>A 1712A>D missense mutation   14 unknown     SSCP TSC-115  
  intron 39 TSC2-7 deletion 5178-5178+1delTG   deletion through splice site mutation   4 sporadic       unknown  
c intron 39 TSC2-7 deletion 5178-5178+1delTG   deletion through splice site mutation   20 sporadic     HD,SSCP 351  
  intron 39 TSC2-14 deletion 5179-10-5179-7delACGT   deletion in non-coding unknown   7 sporadic     SSCP 1799 sequencing parents did not show same deletion, same patient also has a frameshift mutation at 5179
  intron 39 TSC2-231 point 5179-9C>A   non-coding polymorphism   20 unknown     HD,SSCP group 5-10%, reported transposed as A5179-9C (or in old intron sequence!)
  40 TSC2-15 deletion 5179delA 1721M-FS-X in 3'UTR frameshift mutation   7 sporadic       1799 originally reported as 5110delA (exon 31b not included)
c 40 TSC2-15 deletion 5179delA 1721M-FS-X in 3'UTR frameshift mutation   21 sporadic     SSCP 1799S published without exon31b
  40 TSC2-147 point 5188C>T 1724Q>X nonsense mutation   24 sporadic     SSCP S09-01  
  40 TSC2-46 point 5220T>C 1734D silent polymorphism   11 unknown       group EcoRV, 23/71 heterozygous, originally reported as T5151C
  40 TSC2-148 point 5220T>C 1734D silent polymorphism   24 unknown     SSCP unknown 0.163
  40 TSC2-1 point 5220T>C 1734D silent polymorphism   1 unknown       group 0.33
  40 TSC2-232 point 5220T>C 1734D silent polymorphism   26 unknown       group >10%
  40 TSC2-233 deletion 5229-5232delCTCC 1737P-FS-X in 3'UTR frameshift mutation   20 unknown     HD,SSCP 229  
  40 TSC2-96 point 5246G>A 1743R>Q missense unknown   21 sporadic     SSCP 1749S published wihtout exon 31b as 5177G>A
  40 TSC2-234 point 5246G>C 1743R>P missense mutation   20 unknown     HD,SSCP 50  
  40 TSC2-149 deletion 5256-5273delCATCAAGCGGCTCCGCCA 1746delHIKRLR in-frame deletion mutation   24 sporadic     SSCP S18-01  
  40 TSC2-235 deletion 5256-5273delCATCAAGCGGCTCCGCCA 1746delHIKRLR in-frame deletion mutation   20 unknown     HD,SSCP 311  
  40 TSC2-236 deletion 5256-5273delCATCAAGCGGCTCCGCCA 1746delHIKRLR in-frame deletion mutation   20 unknown     HD,SSCP 3  
  40 TSC2-237 deletion 5256-5273delCATCAAGCGGCTCCGCCA 1746delHIKRLR in-frame deletion mutation   20 sporadic     HD,SSCP 44  
  40 TSC2-238 deletion 5256-5273delCATCAAGCGGCTCCGCCA 1746delHIKRLR in-frame deletion mutation   20 unknown     HD,SSCP 360  
  40 TSC2-120 point 5266C>T 1750L>F missense mutation   23 unknown     SSCP TS91-03 reported without exon 31b
  intron 40 TSC2-150 point 5277+72C>T   non-coding polymorphism   24 unknown     SSCP unknown  
  41 TSC2-97 point 5336A>C 1773H>P missense unknown   21 familial     SSCP 431F patient also has missense V144M in exon 29, reported wihtout exon 31b as 5267A>C His1750Pro
  41 TSC2-8 deletion 5358-5389delTCCAGCCGAGCCCACACCTGGCTATGAGGTGG 1780T-FS-X in 3'UTR frameshift mutation   4 unknown     ASO unknown  
c 41 TSC2-8 deletion 5358-5389delTCCAGCCGAGCCCACACCTGGCTATGAGGTGG 1780T-FS-X in 3'UTR frameshift mutation   20 unknown     HD,SSCP 18  
  41 TSC2-98 point 5383G>C 1789E>Q missense unknown   21 familial     SSCP 437F reported as 5314G>C Glu1760Gln, this means that it could be here, and the nucleotides are right or be at nuc 5365 (with exon 31b) and the amino acid is correct. Original report listed without exon31b
  41 TSC2-239 point 5389G>A 1791G>S missense polymorphism   20 unknown     HD,SSCP group  
  41 TSC2-9 insertion 5406insC 1796L-FS-X in 3'UTR frameshift mutation   4 unknown     ASO unkown  
c 41 TSC2-9 insertion 5406insC 1796L-FS-X in 3'UTR frameshift mutation   20 unknown     HD,SSCP 357  
  41 TSC2-61 point 5415G>C 1799S silent polymorphism   14 unknown     SSCP group 1/60 chroms, published without exon 31b
  41 TSC2-2 point 5415G>C 1799S silent polymorphism   1 unknown       group 0.18
  41 TSC2-240 point 5415G>C 1799S silent polymorphism   26 unknown       group >10%
  41 TSC2-10 insertion 5425insT 1803F-FS-X in 3'UTR frameshift mutation   4 unknown     ASO unknown  
c 41 TSC2-10 insertion 5425insT 1803F-FS-X in 3'UTR frameshift mutation   20 unknown     HD,SSCP 172  
  3'UTR TSC2-241 point 5442+26G>A   non-coding polymorphism   21 unknown       unknown 3' UTR
  3'UTR TSC2-12 deletion 5442+55-5442+58delTAAA   deletion in non-coding polymorphism   5 familial linked chr16 LOD1.61 SSCP 427 another mutation occurs in the same family at 4659, this is in the two partially overlapping polyadenylation signals of the 3'UTR; detected in 2 control families
  3'UTR TSC2-242 deletion 5442+61-5442+62delAA   deletion in non-coding polymorphism   20 unknown     HD,SSCP group <5%

Last Updated on 8/8/99
By Mary Pat Reeve