Tuberous Sclerosis Project    

Home | TSC1 | TSC2

 

Gene Exon/Intron Mutation Mutation Type # Seen Comments
TSC2 Exon 01 3 del G 1M-FS-X @ 11 delFS 1  
TSC2 Exon 01 112 del T 38F-FS-X @ 45 delFS 1  
TSC2 Exon 01 133-136 del CTGA 45L-FS-X @ 47 delFS 1  
TSC2 Intron 01 138+1 G>A spl 2  
TSC2 Intron 01 138+5 G>A spl 1  
TSC2 Intron 01 138+20 C>G r-polym 1  
TSC2 Exon 02 196 G>T 66 E>X non 1  
TSC2 Exon 02 201 C>T 67V silent r-polym 1  
TSC2 Exon 03 255 C>T 85V silent r-polym 2  
TSC2 Exon 03 258-283 del 26 bp GGATCTGTTGCAGCCGGAGCGGCCGC 86A-FS-X @ 116 delFS 1  
TSC2 Exon 03 262 C>T 88L silent r-polym 1  
TSC2 Exon 03 268 C>T 90 Q>X non 2  
TSC2 Exon 03 272 C>T 91 P>L -3 r-polym-prob 3 Pathogenicity uncertain, nonconservative change. 2/3 pts had confirmed missenses elsewhere in TSC2
TSC2 Exon 03 300-301 ins CG 100A-FS-X @ 106 insFS 1  
TSC2 Exon 03 330 del G; ins AT complex 1  
TSC2 Intron 03 336+2 T>G spl 1  
TSC2 Intron 03 336+30 G>A r-polym 2  
TSC2 Intron 03 337-1G>T spl 1  
TSC2 Exon 04 357 del C 119L-FS-X @ 181 delFS 1  
TSC2 Exon 04 363 C>T 121A silent r-polym 1  
TSC2 Exon 04 384 del G 128K-FS-X @ 181 delFS 1  
TSC2 Exon 04 415 del A delFS 1  
TSC2 Intron 04 481+1 G>T spl 1  
TSC2 Intron 04 482-3 C>T polym 12%  
TSC2 Exon 05 487-488 del TT 163F-FS-X @ 187 delFS 1  
TSC2 Exon 05 548 T>A 183 L>X non 2  
TSC2 Exon 05 569 ins A 190 Y>X insFS 1  
TSC2 Exon 05 577 G>T 193 E>X non 1  
TSC2 Exon 05 586 G>A 196 A>T 0 mis-poss 1 Pathogenicity uncertain. Conservative change. Affected status of family members uncertain
TSC2 Exon 05 588 ins A 196A-FS-X @ 234 insFS 1  
TSC2 Exon 05 590 del G 197R-FS-X @ 201 delFS 1  
TSC2 Exon 05 598 C>T 200 Q>X non 1  
TSC2 Intron 05 599+5 G>A spl-prob 1 No parental DNA
TSC2 Intron 05 600-2 A>G spl 1 Pathogenicity proven by parental check
TSC2 Intron 05 600-13 G>C r-polym 1  
TSC2 Intron 05 600-84 C>T r-polym 3  
TSC2 Exon 06Ý 603 G>C 201 M>I +1 r-polym-prob 1 Probable rare polymorphism. Pt had another definite TSC2 mutation
TSC2 Exon 06 618 C>A 206 C>X non 1  
TSC2 Exon 06 646 G>A 216 E>K +1 mis-poss 1 Conservative change. No parental DNA
TSC2 Intron 06 648+1 G>AÝ spl 1 25% mosaic
TSC2 Exon 07 658 C>T 220 Q>X non 1  
TSC2 Exon 07 671 del C 224A-FS-X @ 259 delFS 1 patient 10% mosaic
TSC2 Exon 07 729 C>G 243L silent r-polym 4  
TSC2 Exon 07 731 G>A 244 C>Y -2 mis-conf 1 Pathogenicity certain nonconservative change
TSC2 Exon 07 759 C>A 253 C>X non 1  
TSC2 Exon 07 767 ins G 256C-FS-X @ 337 insFS 1  
TSC2 Exon 07 774 G>C 258 K>N 0 mis-spl-conf 1 Affects last base of exon. Pathogenicity proven by parental check
TSC2 Intron 07 774+2 T>A spl 1  
TSC2 Exon 08 782 G>C 261 R>P -2 mis-prob 1 Pathogenicity probable nonconservative change
TSC2 Exon 08 791 T>C 264 L>P -3 mis-prob 1 Pathogenicity probable nonconservative change
TSC2 Exon 08 825 C>A 275 N>K 0 mis-poss 1 Pathogenicity possible conservative change
TSC2 Exon 08 826-827 del AT 276M-FS-X @ 366 delFS 1  
TSC2 Intron 08 849-1 G>A spl 1  
TSC2 Intron 08 849-17 C>T r-polym-prob 1 Pathogenicity uncertain. No other variation found
TSC2 Intron 08 849-53 G>A r-polym 1  
TSC2 Exon 09 856 A>G 286 M>V +1 r-polym 1 Reported prev, conservative change and pt had other mutation found
TSC2 Exon 09 868 ins C 290P-FS-X @ 337 insFS 1  
TSC2 Exon 09 875 T>C 292 L>P -3 mis-conf 1 Pathogenicity certain reported previously, nonconservative change
TSC2 Exon 09 903-922 del 20 bp GGCTCTCTGGGGAGCCCACC 301M-FS-X @ 330 delFS 1  
TSC2 Exon 09 911 G>A 304 W>X non 1  
TSC2 Exon 09 925 del C 309L-FS-X @ 362 delFS 1  
TSC2 Exon 09 926-927 TC>AG 309 L>Q -2 r-polym 1 Unaffected parent had change
TSC2 Exon 09 940-941 ins CT 314N-FS-X @ 363 insFS 1  
TSC2 Exon 09 972 C>A 324 Y>X non 1  
TSC2 Exon 09 972 C>G 324 Y>X non 2  
TSC2 Intron 09 976-1 G>T spl 1  
TSC2 Intron 09Ý 976-3 C>G spl 1  
TSC2 Intron 09 976-15 G>A spl 4 Available parent screened neg
TSC2 Exon 10 1001T>G 334V>G -3 mis-prob 1 Pathogenicity probable nonconservative change
TSC2 Exon 10 1082 T>C 361 L>P -3 mis-conf 1 Pathogenicity certain
TSC2 Exon 10 1090-1092 del ATC 364 del I infrdel-conf 1 Pathogenicity certain. Neither parent had del
TSC2 Exon 10 1096 G>T 366 E>X non 2  
TSC2 Exon 10 1100 G>A 367 R>Q +1 polym 6%  
TSC2 Exon 10 1110 G>A 370Q silent polym 9  
TSC2 Exon 10 1117 C>T 373 Q>X non 1  
TSC2 Exon 11 1142 G>A 381 R>K +2 r-polym 1 Conservative change. Pt had other mutation found
TSC2 Exon 11 1166 del C 389T-FS-X @ 424 delFS 1  
TSC2 Exon 11 1210 C>T 404 Q>X non 2  
TSC2 Exon 11 1219T>G 407Y>D -3 mis-conf 2 Pathogenicity certain. Nonconservative change and parents screened neg
TSC2 Exon 11 1222 ins T 408F-FS-X @ 409 insFS 1  
TSC2 Exon 11 1255 C>T 419 P>S -1 mis-spl-conf 1 Second to last base of exon. Parents screened negative
TSC2 Intron 11 1258-2 A>C spl 1  
TSC2 Intron 11 1258-3 C>G spl-conf 1 Parents screened neg
TSC2 Exon 12 1265-1266 del CC 422S-FS-X @ 429 delFS 1  
TSC2 Exon 12 1276 C>T 426L silent r-polym 1  
TSC2 Exon 12 1281 C>A 427I silent r-polym 3  
TSC2 Exon 12 1318 G>A 440 G>S 0 r-polym 4 Conservative change
TSC2 Exon 12 1322 G>A 441 W>X non 1  
TSC2 Exon 12 1336 C>T 446 Q>X non 2  
TSC2 Exon 12 1340 C>T 447 A>V 0 r-polym-prob 1 Conservative change. Unaffected parent had base change
TSC2 Intron 12 1362-10 C>A r-polym 1  
TSC2 Intron 12 1362-32 C>G r-polym 1.40%  
TSC2 Intron 12 1362-32 ins C r-polym 1  
TSC2 Intron 12 1362-62 G>C r-polym 1  
TSC2 Exon 13 1372 C>T 458 R>X non 8  
TSC2 Exon 13 1385 G>A 462 R>H 0 mis-poss 1 Pathogenicity uncertain. Conservative change. No parental DNA
TSC2 Exon 13 1385-1386 GC>CT 462 R>L -2 mis-prob 1 Pathogenicity probable nonconservative change. No parental DNA
TSC2 Exon 13 1397 T>G 466 L>R -2 mis-prob 1 Pathogenicity probable nonconservative change. No parental DNA
TSC2 Exon 13 1407 del G 469L-FS-X @ 484 delFS 1  
TSC2 Exon 13 1409 del C 470S-FS-X @ 484 delFS 1  
TSC2 Exon 13 1443 G>A 481E silent spl 1 Affects last base of exon
TSC2 Intron 13 1444-1G>A spl 1  
TSC2 Intron 13 1444-2A>G spl 1  
TSC2 Intron 13 1444-13 T>C r-polym 1  
TSC2 Intron 13 1444-40 G>A r-polym 1  
TSC2 Exon 14 1472 C>A 491 S>X non 2  
TSC2 Exon 14 1492 G>T 498 E>X non 1  
TSC2 Exon 14 1555 del T 519C-FS-X @ 534 delFS 1  
TSC2 Exon 14 1563 C>T 448 P>S -1 r-polym 1 Nonconservative change. Unaffected parent had change. Pt had other mutation found
TSC2 Exon 14 1563 ins A 521T-FS-X @ 588 insFS 1  
TSC2 Exon 14 1578 C>T 526S silent polym 6%  
TSC2 Exon 14 1599 G>A 533K silent mis-spl-prob 2 Affects last base of exon
TSC2 Intron 14 1600-14 C>T polym 6%  
TSC2 Exon 15 1628 C>T 543 P>L -3 r-polym-poss 1 Pt has second definite mutation
TSC2 Exon 15 1692 del C 564V-FS-X @ 697 delFS 1  
TSC2 Intron 15 1716+3 del G del-spl 1  
TSC2 Intron 15 1716+10 C>A r-polym 1  
TSC2 Intron 15 1717-1 G>A spl 1  
TSC2 Intron 15 1717-1 G>T spl 1  
TSC2 Intron 15 1717-23 T>G r-polym 1  
TSC2 Intron 15 1717-28 C>T r-polym 2  
TSC2 Exon 16 1735 C>G 579 P>A -1 r-polym 1 Nonconservative change. Pt had non in TSC1 E8
TSC2 Exon 16 1742 G>A 581 S>N +1 r-polym 1 Conservative change. Pt had non in TSC2 E35
TSC2 Exon 16 1747 G>A 583 A>T 0 r-polym 5  
TSC2 Exon 16 1778 A>G 593 H>R 0 r-polym 1 Seen in unaffected parent
TSC2 Exon 16 1783 C>T 595 Q>X non 1  
TSC2 Exon 16 1792 T>C 598 Y>H +2 mis-prob 1 Conservative change. All affected family members had variant
TSC2 Exon 16 1793 A>G 598 Y>C -2 mis-prob 1 Pathogenicity probable. Nonconservative change. No parental DNA
TSC2 Exon 16 1794 C>G 598 Y>X non 2  
TSC2 Exon 16 1819 G>A 607 A>T 0 r-polym 1 Conservative change. Pt had del in TSC2 E23
TSC2 Exon 16 1831 C>G 611 R>G -2 mis-prob 1 Pathogenicity probable. Nonconservative change. No parental DNA
TSC2 Exon 16 1831 C>T 611 R>W -3 mis-conf 6  
TSC2 Exon 16 1832 G>A 611 R>Q +1 mis-conf 8  
TSC2 Intron 16 1839+1 G>C spl 1  
TSC2 Intron 16 1839+6 G>A r-polym-prob 1 Pt had other mutation found
TSC2 Exon 17 1843-1844 del TT 615F>X delFS 1 Patient 40% mosaic
TSC2 Exon 17 1865 G>A 622 R>Q +1 r-polym 1 Conservative change. Pt had non in TSC2 E22
TSC2 Exon 17 1865 G>C 622 R>P -2 mis-prob 1 Pathogenicity probable. Nonconservative change. No parental DNA
TSC2 Exon 17 1946 T>C 649 M>T -1 mis-spl-prob 1 Affects last base of exon
TSC2 Exon 18 1960-1961 del GG 654G-FS-X @ 655 delFS 1  
TSC2 Exon 18 1965 ins T 655S-FS-X @ 656 insFS 1  
TSC2 Exon 18 1969 A>T 657 K>X non 1  
TSC2 Exon 18 1983 ins C 661G-FS-X @ 702 insFS 1  
TSC2 Exon 18 2022 ins A 674P-FS-X @ 702 insFS 1  
TSC2 Exon 18 2031 C>T 677P silent r-polym 2  
TSC2 Exon 18 2073 C>T 691R silent r-polym 1  
TSC2 Exon 18 2078 T>C 693 L>P -3 mis-prob 1 Pathogenicity probable. Nonconservative change. No parental DNA
TSC2 Exon 18 2081-2083 delTGC 694delL infr-del-conf 1 Pathogenicity certain. Neither parent had del
TSC2 Exon 18 2082-2083 GC>TT 695 Q>X non 1  
TSC2 Exon 18 2095 C>T 699 Q>X non 1 Patient 25% mosaic
TSC2 Intron 18 2098-1G>A spl 2  
TSC2 Intron 18 2098-2A>G spl 1  
TSC2 Exon 19 2108 G>A 703 W>X non 2  
TSC2 Exon 19 2153 G>C 718 R>P -2 r-polym-poss 1 Pt mosaic for confirmed nonconservative mis TSC2 E23
TSC2 Exon 19 2158-2171 ins 14 bp GTCCCTGCGCTATA 720K-FS-X @ 775 insFS 1  
TSC2 Exon 19 2181 del T 727P-FS-X @ 770 delFS 1  
TSC2 Exon 19 2210-2214 ins GCTCT 737L-FS-X @ 772 insFS 1  
TSC2 Intron 19 2221-2 A>C spl 1  
TSC2 Intron 19 2221-2 A>G spl 1  
TSC2 Intron 19 2221-28 A>G r-polym 7  
TSC2 Exon 20 2225 C>G 742 S>X non 1  
TSC2 Exon 20 2232-2233 del AA 744P-FS-X @ 760 delFS 1  
TSC2 Exon 20 2239 C>T 747L silent r-polym 1  
TSC2 Exon 20 2240-2241 del TG 747L-FS-X @ 760 delFS 1  
TSC2 Exon 20 2251C>T 751R>X non 3  
TSC2 Exon 20 2328 C>A 776 Y>X non 1  
TSC2 Exon 20 2337 del C 779Y-FS-X @ 828 delFS 1  
TSC2 Exon 20 2344 del A 782K-FS-X @ 828 delFS 1  
TSC2 Intron 20 2355+2-2355+5delTAGG del-splice 2 Deletion affects splice site. Parents screened neg
TSC2 Exon 21 2359 G>T 787 E>X non 1  
TSC2 Exon 21 2363 T>G 788 M>R -1 mis-prob 1 Pathogenicity probable. Nonconservative base change
TSC2 Exon 21 2380 C>T 794 Q>X non 1  
TSC2 Exon 21 2399 ins G 800C-FS-X @ 817 insFS 1  
TSC2 Exon 21 2415 C>T 805V silent r-polym 1  
TSC2 Exon 21 2423 T>C 808 L>S -2 mis-prob 1 Pathogenicity probable. Nonconservative base change. No parental DNA
TSC2 Exon 21 2440 G>A 814 E>K +1 mis-conf 1 conservative change but all affected family members have change.
TSC2 Exon 21 2451-2455 del TCA 819 del I infr-del-prob 1 Pathogenicity probable. No other change found. No parental DNA
TSC2 Exon 21 2468 ins T 823L-FS-X @ 882 insFS 1  
TSC2 Exon 21 2470-2473 del CCTG 824P-FS-X @ 827 delFS 1  
TSC2 Exon 21 2476 C>A 826 L>M +2 r-polym 1 Conservative change. Splice change found in TSC2 I3
TSC2 Exon 21 2498-2502 del TCTCA 833I-FS-X @ 880 delFS 1  
TSC2 Exon 21 2538 ins C 846F-FS-X @ 882 insFS 1  
TSC2 Exon 21 2540 T>C 847 L>P -3 mis-conf 1 Pathogenicity confirmed. Nonconservative base change. Parents screened neg
TSC2 Intron 21 2545+6 T>G spl-poss 1  
TSC2 Intron 21 2545+26 G>A spl-poss 3 2/3 nothing else found. Family checks unable to confirm with out a doubt
TSC2 Intron 21 2545+31 C>T r-polym 1  
TSC2 Intron 21 2546-1 G>A spl 1  
TSC2 Intron 21 2546-5 C>T r-polym-prob 1 Pt had other mutation found
TSC2 Exon 22 2580 T>C 860F silent polym 2.20%  
TSC2 Exon 22 2582 del C 861A-FS-X @ 893 delFS 1  
TSC2 Exon 22 2590 C>T 864 Q>X non 1  
TSC2 Exon 22 2627 ins C 876T-FS-X @ 882 insFS 1  
TSC2 Exon 22 2631 C>T 877N silent r-polym 1  
TSC2 Intron 22 2639+1 G>C spl 1  
TSC2 Intron 22 2639+1 ins G spl-ins 1  
TSC2 Intron 22 2639+44 C>G polym 1.90%  
TSC2 Exon 23 2669-2677 del ATCACGTCA 890H>L;891 del HVI infr-del-prob 1 No parental DNA to confirm
TSC2 Exon 23 2677 ins A 893I-FS-X @ 914 insFS 1  
TSC2 Exon 23 2687 G>A 896 W>X non 1  
TSC2 Exon 23 2713 C>T 905 R>W -3 mis-conf 5 Pathogenicity certain. 1 mosaic pt 20-30% mosaic
TSC2 Exon 23 2714 G>A 905 R>Q +1 mis-conf 3  
TSC2 Exon 23 2742 G>A 914K silent spl 1 Affects last base of exon
TSC2 Intron 23 2742+13 C>T r-polym 1  
TSC2 Intron 23 2743-1 ins GCCAG spl-ins 1  
TSC2 Intron 23 2743-2 A>C spl 1  
TSC2 Intron 23 2743-2 A>G spl 1  
TSC3 Intron 23 2743-3 C>A r-polym 1  
TSC2 Exon 24 2784 C>G 929P silent r-polym 1  
TSC2 Exon 24 2785 G>T 929 E>X non 1  
TSC2 Exon 24 2798 T>G 933 F>C -2 r-polym-poss 1 Pt had other mutation found
TSC2 Intron 24 2837+11 ins C insertion r-polym 1  
TSC2 Intron 24 2838-4 A>G r-polym 1  
TSC2 Exon 25 2853 A>T 951 R>S -1 mis-prob 1 Pathogenicity probable. Nonconservative base change
TSC2 Exon 26 2974 C>T 992 Q>X non 1  
TSC2 Exon 26 2977 del 49 bp 993T-FS-X @ 999 delFS 1  
TSC2 Exon 26 2979 G>A 993T silent r-polym 2  
TSC2 Exon 26 3025 G>T 1009 A>S +1 r-polym 1 Pt had other definite mutation
TSC2 Exon 26 3082 G>A 1028 D>N +1 mis-poss 1 Pathogenicity uncertain. Conservative base change and no parental DNA
TSC2 Exon 26 3094C>T 1032R>X non 2  
TSC2 Exon 26 3098 ins A 1033Y>X insFS 3  
TSC2 Exon 26 3099 C>A 1033 Y>X non 2  
TSC2 Exon 26 3106 T>C 1036 S>P -1 mis-prob 1 Pathogenicity probable. Nonconservative base change
TSC2 Exon 26 3125 ins 20bp insFS 1  
TSC2 Exon 26 3126 G>C 1042P silent r-polym 1  
TSC2 Intron 26 3131+11-3131+28 del 18 bp spl-prob 1 Small family. All affected had this change
TSC2 Intron 26 3131+34 C>T r-polym 2  
TSC2 Intron 26 3132-1 G>C spl 1  
TSC2 Exon 27 3140 T>C 1047 V>A 0 mis-poss 1 Conservative base change and no parental DNA
TSC2 Exon 27 3178 T>C 1060 W>R -3 mis-conf 1 Pathogenicity certain. Nonconservative base change
TSC2 Exon 27 3197 ins T 1066L-FS-X @ 1167 insFS 1  
TSC2 Exon 27 3204-3205 del TG 1068T-FS-X @ 1166 delFS 1 mosaic
TSC2 Exon 27 3212 C>G 1071 T>R -1 mis-conf 1 Pathogenicity certain. Nonconservative base change. Parents screened neg
TSC2 Exon 27 3213 del A 1071T-FS-X @ 1081 delFS 1  
TSC2 Exon 27 3220-3221delGG; 3221 insC delFS 1  
TSC2 Exon 27 3284 del G 1095S-FS-X @ 1102 delFS 1  
TSC2 Exon 28 3295 del G 1099G-FS-X @ 1102 delFS 1  
TSC2 Exon 28 3355 C>T 1119 Q>X non 1  
TSC2 Intron 28 3397+5 G>A spl 1 All affecteds in family have change
TSC2 Intron 28 3398-1 G>A spl 1  
TSC2 Exon 29 3412 C>T 1138 R>X non 7  
TSC2 Exon 29 3422 C>T 1141 A>V 0 mis-poss 2  
TSC2 Exon 29 3442 C>T 1148 Q>X non 2  
TSC2 Exon 29 3476 G>A 1159 R>Q +1 r-polym 1 Pt had other mutation found
TSC2 Exon 29 3476 G>T 1159 R>L -2 mis-prob 1 Pathogenicity probable. Nonconservative base change and no parental DNA
TSC2 Exon 29 3491 C>T 1164 A>V 0 mis-poss 1 Conservative base change and no parental DNA
TSC2 Exon 29 3535 G>T 1179 E>X non 1  
TSC2 Exon 29 3562 ins C 1188P-FS-X @ 1233 insFS 1  
TSC2 Exon 29 3572 del C 1191T-FS-X @ 1209 delFS 1  
TSC2 Exon 29 3598 C>T 1200 R>W -3 mis-prob 2 Pathogenicity probable. Nonconservative base change and no parental DNA
TSC2 Exon 29 3610 G>A 1204 G>R -2 mis-spl 1 Affects last base of exon
TSC2 Intron 29 3610+1 G>A spl 1  
TSC2 Intron 29 3610+25 G>C r-polym 1  
TSC2 Intron 29 3610+6 G>AÝÝ r-polym-prob 1 Pt had other mutation found
TSC2 Intron 29 3611-28 C>A r-polym 1  
TSC2 Exon 30 3622 T>G 1208 W>G -2 r-polym-prob 1 Unaffected parent has base change
TSC2 Exon 30 3685C>T 1229 Q>X non 3  
TSC2 Exon 30 3693-3696 del GTCT 1231L-FS-X @ 1323 delFS 3  
TSC2 Exon 30 3744 C>T 1248A silent r-polym 3  
TSC2 Exon 30 3750 C>G 1250 Y>X non 2  
TSC2 Exon 30 3770 C>T 1257 A>V 0 r-polym-prob   Pt mosaic for confirmed nonconservative mis TSC2 E23
TSC2 Exon 30 3787 del C 1263P-FS-X @ 1324 delFS 2  
TSC2 Exon 30 3793 C>T 1265 P>S -1 r-polym-prob 1 Pt had other mutation found
TSC2 Intron 30 3815-15 G>AÝ r-polym 3  
TSC2 Exon 31 3816 G>A 1272V r-polym-prob 1 Change is in the second to lase base. Unknown if causes a splicing error
TSC2 Exon 31 3827 C>T 1276 S>F -2 r-polym-prob 1 Pt had other mutation found
TSC2 Intron 31 3883+37 C>T r-polym 1  
TSC2 Intron 31 3883+8 C>GÝ r-polym 1  
TSC2 Intron 31 3884-17 C>G r-polym 3  
TSC2 Exon 32 3889 G>A 1297 A>T 0 r-polym 3 3/3 had confirmed mutations
TSC2 Exon 32 3914 C>T 1305 P>L -3 r-polym-poss 1 Pt had other mutation found
TSC2 Exon 32 3915 G>A 1305P silent r-polym 5  
TSC2 Exon 32 3937 G>T 1313 E>X non 1  
TSC2 Exon 32 3983 del G 1328R-FS-X @ 1382 delFS 2  
TSC2 Exon 32 3986 G>A 1329 R>H 0 r-polym 3 1/3 pts had other mutation found
TSC2 Intron 32 4005+1G>T spl 1  
TSC2 Exon 33 4033-4036 ins ACTT 1345K-FS-X @ 1414 insFS 1  
TSC2 Exon 33 4096 G>T 1366 E>X non 1  
TSC2 Exon 33 4105 C>T 1369 R>W -3 r-polym 1  
TSC2 Exon 33 4129 C>T 1377 Q>X non 1  
TSC2 Exon 33 4162-4162 del TC 1388S-FS-X @ 1412 delFS 1  
TSC2 Exon 33 4167 C>T 1389P silent r-polym 1  
TSC2 Exon 33 4174 C>T 1392 Q>X non 1  
TSC2 Exon 33 4174 del C 1392Q-FS-X @ 1410 delFS 1  
TSC2 Exon 33 4178-4179 del CT 1393T-FS-X @ 1412 delFS 2  
TSC2 Exon 33 4195 G>A 1399 G>R -2 r-polym-prob 1 Pt had other mutation found
TSC2 Exon 33 4204 del G 1402G-FS-X @ 1410 delFS 3  
TSC2 Exon 33 4219 G>C 1407 V>L +1 r-polym 1 Pt had other mutation found
TSC2 Exon 33 4221 del G 1407V-FS-X @ 1410 delFS 1  
TSC2 Exon 33 4241-4247 del 35 bp delFS 1  
TSC2 Exon 33 4255 C>T 1419 Q>X non 1  
TSC2 Exon 33 4255 del C 1419 Q-FS-X @ 1475 delFS 1  
TSC2 Exon 33 4269 G>A 1423L silent r-polym 2  
TSC2 Exon 33 4276 G>T 1426 E>X non 1  
TSC2 Exon 33 4285 G>T 1429 A>S +1 r-polym 5  
TSC2 Exon 33 4289 G>A 1430 W>X non 1 10% mosaic
TSC2 Exon 33 4290 G>A 1430 W>X non 1  
TSC2 Exon 33 4308-4311 del CAGT 1436D-FS-X @ 1474 delFS 1  
TSC2 Exon 33 4313 G>A 1438 R>Q +1 mis-conf 1 Pathogenicity certain. Parents screened neg
TSC2 Exon 33 4316 ins G 1438R-FS-X @ 1523 insFS 1  
TSC2 Exon 33 4324 G>A 1442 E>K +1 r-polym-prob 1 Pathogenicity uncertain. Conservative change and no parental DNA
TSC2 Exon 33 4375 C>T 1459 R>X non 4  
TSC2 Exon 33 4375 ins T 1459R-FS-X @ 1523 insFS 1  
TSC2 Exon 33 4403-4429 ins 27 bp infr-ins-prob 1 One parent tested neg
TSC2 Exon 33 4406 C>A 1469 S>X non 1  
TSC2 Exon 33 4418-4419 del AG 1473K-FS-X @ 1522 delFS 1  
TSC2 Exon 33 4424-4427 ins TAGA 1475V-FS-X @ 1524 insFS 1  
TSC2 Exon 33 4432 G>C 1478 D>H -1 r-polym-prob 1 Pt had other mutation found
TSC2 Exon 33 4439 T>A 1480 L>X non 1  
TSC2 Exon 33 4450-4451 del GC 1484A-FS-X @ 1522 delFS 1  
TSC2 Exon 33 4472 del AAG>TT complex delFS 1  
TSC2 Exon 33 4489 C>A 1497 P>T -1 mis-prob 1 Pathogenicity probable. Nonconservative base change.
TSC2 Exon 33 4490 C>G 1497 P>R -2 mis-conf 1 Pathogenicity certain. Nonconservative change and prev reported
TSC2 Exon 33 4493 G>A 1498 S>N +1  mis-spl-prob 1 Affects last base of exon
TSC2 Intron 33 4493+16 C>G r-polym 1  
TSC2 Exon 34 4511 T>A 1504 L>H -3 mis-conf 1 Pathogenicity confirmed. Nonconservative change and neither parent had change
TSC2 Exon 34 4525-4527 del TTC 1509delF polym 1.30%  
TSC2 Exon 34 4536 C>T 1512D silent r-polym 2  
TSC2 Exon 34 4544-4547 del ACAA 1515N-FS-X @ 1574 delFS 3  
TSC2 Intron 34 4569+12 C>T r-polym 1  
TSC2 Exon 35 4579 ins T 1527F-FS-X @ 1528 insFS 1  
TSC2 Exon 35 4579 T>C 1527 F>L 0 r-polym-prob 1 Unaffected parent had change
TSC2 Exon 35 4598-4626 ins 29bp insFS 1  
TSC2 Exon 35 4606 C>T 1536 Q>X non 1  
TSC2 Exon 35 4620 C>A 1540 Y>X non 1  
TSC2 Exon 35 4620 C>G 1540 Y>X non 1  
TSC2 Exon 35 4621-4629 del 9, 4622-4635 ins 13 bp complex 1  
TSC2 Exon 35 4645 T>A 1549 Y>N -2 mis-prob 1 Pathogenicity probable. Nonconservative base change
TSC2 Exon 35 4655-4657delAAG 1552delE infr-del-conf 1 Pathogenicity confirmed. Neither parent had base change
TSC2 Exon 35 4662 G>A 1554Q silent spl 1 Affects last base of exon
TSC2 Intron 35 4662+16 C>T r-polym 1  
TSC2 Intron 35 4663-1G>A spl 2  
TSC2 Exon 36 4666 del A 1556N-FS-X @ 1575 delFS 1  
TSC2 Exon 36 4672 G> A 1558 E>K +1 mis-conf 1 Pathogenicity confirmed. Conservative base change and neither parent had change
TSC2 Exon 36 4685 T>C 1562 L>P -3 mis-prob 1 pathogenicity probable. Nonconservative change and no parental DNA
TSC2 Exon 36 4695 del G 1565E-FS-X @ 1575 delFS 1  
TSC2 Exon 36 4697 ins A 1566H-FS-X @ 1602 insFS 1  
TSC2 Exon 36 4700 G>A1567 G>D -1 mis-conf 1 mosaic 20-30%
TSC2 Exon 36 4712 A>G 1571 Y>C -2 mis-prob 1 pathogenicity probable. Nonconservative change and no parental DNA
TSC2 Exon 36 4726-4782 del 57bp infr-del-prob 1  
TSC2 Exon 36Ý 4727 C>T 1576 T>M -1 r-polym-prob 1 Unaffected parent had change
TSC2 Exon 36 4727-4753 del 35bp delFS 1  
TSC2 Exon 36 4783 G>A 1595 G>R -2 mis-prob 1 pathogenicity probable. Nonconservative change and no parental DNA
TSC2 Exon 36 4790 T>C 1597 L>P -3 mis-conf 1  
TSC2 Exon 36 4823-4825 del ACT 1608delY infr-del-conf 2 Neither parent had del
TSC2 Exon 36 4825-4831del TGCTGGC 1609C-FS-X @ 1622 delFS 1  
TSC2 Exon 36 4829 G>A 1610 W>X non 1  
TSC2 Exon 36 4830 G>A 1610 W>X non 1  
TSC2 Exon 36 4842-4844 del CAT 1614delI infr-del-prob 1 Pathogenicity uncertain. No parental DNA
TSC2 Intron 36 4849+18 C>T r-polym 1  
TSC2 Intron 36 4849+34 C>T r-polym 1  
TSC2 Exon 37 4850-1 G>A spl 1  
TSC2 Exon 37 4854 C>T 1618V silent r-polym 1  
TSC2 Exon 37 4854 del C 1618V-FS-X @ 1624 delFS 1  
TSC2 Exon 37 4868 del C 1623T-FS-X @ 1624 delFS 1  
TSC2 Exon 37 4889-4989+135 235 bp del large del 1  
TSC2 Exon 37 4911 G>A 1637K silent r-polym 1  
TSC2 Exon 37 4918 C>T 1640 H>Y +2 mis-poss 1 Pathogenicity uncertain. Conservative change and no parental DNA
TSC2 Exon 37 4927 A>C 1643 N>H +1 mis-poss 1 Conservative change
TSC2 Exon 37 4933-4934 del TT 1645F-FS-X @ 1651 delFS 1  
TSC2 Exon 37 4943 T>C 1648 I>T -1 mis-conf 1 Pathogenicity certain. Nonconservative change and neither parent had change
TSC2 Exon 37 4952 A>G 1651 N>S +1 mis-conf 1  
TSC2 Exon 37 4959 C>A 1653S silent r-polym 1  
TSC2 Exon 37 4959 C>T 1653S silent polym 1.90%  
TSC2 Exon 37 4974 G>A 1658K silent r-polym 1  
TSC2 Exon 37 4983 C>T 1661T silent r-polym 2  
TSC2 Exon 37 4989 ins G insFS 1  
TSC2 Intron 37 4989+1 G>A spl 1  
TSC2 Intron 37 4990-7 C>T r-polym 2  
TSC2 Exon 38 5024 C>T 1675 P>L -3 mis-conf 11, 1.3%  
TSC2 Exon 38 5025 G>A 1675P silent r-polym 3  
TSC2 Exon 38 5028 G>A 1676L silent r-polym 1  
TSC2 Exon 38 5034 C>A 1678 Y>X non 1  
TSC2 Exon 38 5034 C>G 1678 Y>X non 1  
TSC2 Exon 38 5034 del C 1678 Y>X delFS 1 mosaic
TSC2 Exon 38 5051 del C delFS 1  
TSC2 Exon 38 5056 C>T 1686 Q>X non 1  
TSC2 Exon 38 5061-5068 +16 del 34 bp r-polym 4  
TSC2 Exon 38 5061-5068 +16 ins 34 bp r-polym 1  
TSC2 Exon 38 5068+1 G>A spl 1  
TSC2 Intron 38 5068+61 78 bp ins r-polym 1  
TSC2 Intron 38 5068+9 G>A r-polym 1  
TSC2 Intron 38 5069-1 G>A spl 1  
TSC2 Intron 38 5069-1 G>C spl 1  
TSC2 Exon 39 5075 del AGGG delFS 1  
TSC2 Exon 39 5084-5094 del TGGACACCAGC 1695V-FS-X @ 1701 delFS 1  
TSC2 Exon 39 5106 C>A 1702I silent r-polym 1  
TSC2 Exon 39 5108 T>G 1703 V>G -3 mis-conf 1 Pathogenicity certain. Nonconservative change
TSC2 Exon 39 5116 C>T 1706 R>C -3 r-polym-prob 1 Pt had other mutation found
TSC2 Exon 39 5126 C>T 1709 P>L -3 mis-spl-conf 4 Pathogenicity certain
TSC2 Exon 39 5138 G>A 1713 R>H 0 mis-poss 1 Pathogenicity unknown. Conservative base and no parental DNA
TSC2 Exon 39 5144-5155 del TGGCCCTGCACG 1715M>T;1716 del ALHA infr-del-conf 1  
TSC2 Exon 39 5157 del A delFS 1  
TSC2 Intron 39 5160+1 G>A spl 2  
TSC2 Intron 39 5160+1 G>C spl 1  
TSC2 Intron 39 5160+1 G>T spl 1  
TSC2 Intron 39 5160+43 C>T r-polym 1  
TSC2 Intron 39 5160+5 G>T spl-prob 1  
TSC2 Intron 39 5160+7 G>C r-polym 1  
TSC2 Intron 39 5161-1 G>A spl 2  
TSC2 Intron 39 5161-1 G>C spl 1  
TSC2 Intron 39 5161-10 A>C polym 27%  
TSC2 Intron 39 5161-27 del GAG r-polym 1  
TSC2 Intron 39 5161-4 C>G r-polym 1 Unaffected parent had change
TSC2 Exon 40 5167 T>C 1723 S>P -1 mis-prob 1 pathogenicity probable. Nonconservative change and no parental DNA
TSC2 Exon 40 5185 C>T 1729 R>C -3 r-polym-prob 1 Pt had other mutation found
TSC2 Exon 40 5202 T>C 1734D silent polym 19%  
TSC2 Exon 40 5220 G>A 1740 W>X non 1  
TSC2 Exon 40 5227 C>G 1743 R>GÝ -2 mis-prob 1 pathogenicity probable. Nonconservative change and no parental DNA
TSC2 Exon 40 5227 C>T 1743 R>W -3 mis-prob 4 pathogenicity probable. Nonconservative change and no parental DNA
TSC2 Exon 40 5228 G>A 1743 R>Q +1 r-polym 2 Affected parent did not have change
TSC2 Exon 40 5238-5255 del 18bp CATCAAGCGGCTCCGCCA 1746 del HIKRLR infr-del-conf 15, 1.8%  
TSC2 Exon 40 5252-5259+19 del 27bp delFS 3  
TSC2 Intron 40 5259+72 C>T polym 15%  
TSC2 Intron 40 5260-25 C>G polym 15%  
TSC2 Intron 40 5260-83 C>G r-polym 2  
TSC2 Exon 41 5276 C>A 1759 A>D -2 r-polym-prob 1 Pt had other mutation found
TSC2 Exon 41 5359 G>A 1787 G>S 0 r-polym 6  
TSC2 Exon 41 5376 G>C 1792 Q>H 0 r-polym 1  
TSC2 Exon 41 5379-5381 ins GAA 1794 ins E r-polym-prob 1 Unaffected parent had change
TSC2 Exon 41 5383 C>T 1795 R>C -3 r-polym-prob 2 1/2 patients had cofirmed mutation
TSC2 Exon 41 5386 C>A 1796 L>I +2 mis-poss   Conservative change and neither parent had change. However, some doubt as to pathogenicity
TSC2 Exon 41 5397 G>A 1799S silent polym 9%  
TSC2 Exon 41 5419 G>T 1807 V>L +1 r-polym 1  
TSC2 3' 5424+26 G>A r-polym 6  
TSC2 3' 5424+61-5424+62 del AA r-polym 9  
TSC2 3' 5424+71 C>A r-polym 4  
           
TSC2 Intron 02 4.5kb del I2-5 large del 1  
TSC2 Exon 03 4kb del (3F-10R primers) large del 1  
TSC2 Intron 09 3.9kbdelI9-I13 large del 1  
TSC2 Intron 09 465 bp del, intron 9-10 large del 1  
TSC2 Intron 14 del I14-I15 large del 1  
TSC2 Intron 32 I32-I35 del large del 1  
TSC2 Exon 37 1.4kb del, exons 37-39 large del 1  
TSC2 Intron 39 440 bp del I39-3'UTR large del 1  
TSC2 Intron 1 34kb del, introns 1-33 large del 1  
TSC2 Exon 1 39kb del 1-40 large del 1  
           

Key to abbreviations used in tables

Abbreviation 

Definition
delFS frameshift deletion
spl splice
r-polym rare polymorphism
r-polym-prob rare polymorphism probable
insFS frameshift insertion
non nonsense
mis-conf confirmed missense by parental checks
mis-poss missense possible
mis-spl-conf missense splice confirmed mutation
mis-prob missense probable, nonconservative change and 0/1 parental check
infrdel-conf inframe deletion confirmed by parental checks
# seen # times seen as heterozygous
# seen % % of heterozygous alleles

Key to amino acid substitution scoring

BLOSUM-62 scoring matrix for amino acid substitutions

From Henikoff and Henikoff. PNAS 89:10915-9, 1992.

The more negative the number, the less conservative the change

 

 

  A C D E F G H I K L M N P Q R S T V W Y  
A 4 0 -2 -1 -2 0 -2 -1 -1 -1 -1 -2 -1 -1 -1 1 0 0 -3 -2 A
C 0 9 -3 -4 -2 -3 -3 -1 -3 -1 -1 -3 -3 -3 -3 -1 -1 -1 -2 -2 C
D -2 -3 6 2 -3 -1 -1 -3 -1 -4 -3 1 -1 0 -2 0 -1 -3 -4 -3 D
E -1 -4 2 5 -3 -2 0 -3 1 -3 -2 0 -1 2 0 0 -1 -2 -3 -2 E
F -2 -2 -3 -3 6 -3 -1 0 -3 0 0 -3 -4 -3 -3 -2 -2 -1 1 3 F
G 0 -3 -1 -2 -3 6 -2 -4 -2 -4 -3 0 -2 -2 -2 0 -2 -3 -2 -3 G
H -2 -3 -1 0 -1 -2 8 -3 -1 -3 -2 1 -2 0 0 -1 -2 -3 -2 2 H
I -1 -1 -3 -3 0 -4 -3 4 -3 2 1 -3 -3 -3 -3 -2 -1 3 -3 -1 I
K -1 -3 -1 1 -3 -2 -1 -3 5 -2 -1 0 -1 1 2 0 -1 -2 -3 -2 K
L -1 -1 -4 -3 0 -4 -3 2 -2 4 2 -3 -3 -2 -2 -2 -1 1 -2 -1 L
M -1 -1 -3 -2 0 -3 -2 1 -1 2 5 -2 -2 0 -1 -1 -1 1 -1 -1 M
N -2 -3 1 0 -3 0 1 -3 0 -3 -2 6 -2 0 0 1 0 -3 -4 -2 N
P -1 -3 -1 -1 -4 -2 -2 -3 -1 -3 -2 -2 7 -1 -2 -1 -1 -2 -4 -3 P
Q -1 -3 0 2 -3 -2 0 -3 1 -2 0 0 -1 5 1 0 -1 -2 -2 -1 Q
R -1 -3 -2 0 -3 -2 0 -3 2 -2 -1 0 -2 1 5 -1 -1 -3 -3 -2 R
S 1 -1 0 0 -2 0 -1 -2 0 -2 -1 1 -1 0 -1 4 1 -2 -3 -2 S
T 0 -1 -1 -1 -2 -2 -2 -1 -1 -1 -1 0 -1 -1 -1 1 5 0 -2 -2 T
V 0 -1 -3 -2 -1 -3 -3 -3 -2 1 1 -3 -2 -2 -3 -2 0 4 -3 -1 V
W -3 -2 -4 -3 1 -2 -2 -3 -3 -2 -1 -4 -4 -2 -3 -3 -2 -3 11 2 W
Y -2 -2 -3 -2 3 -3 2 -1 -2 -1 -1 -2 -3 -1 -2 -2 -2 -1 2 7 Y
  A C D E F G H I K L M N P Q R S T V W Y