Mutation data of the RB1 gene in retinoblastoma

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case #/Frequency Consequence Hereditary pattern*2 Symptom Onset germinal/somatic Reference
N 296 1 A W99X 1 Trp->Stop at codon 98 sporadic bilateral intraocular tumors early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
M 554 1 C I185T 1 Ile->Thr at codon 185 sporadic bilateral intraocular tumors early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
N 1072 1 T R358X 1 Arg->Stop at codon 358 sporadic unilateral intraocular tumor early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
N 1399 1 T R467X 1 Arg->Stop at codon 467 sporadic bilateral intraocular tumors early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
N 1735 1 T R579X 1 Arg->Stop at codon 579 AD familial intraocular tumors early germinal Blanquet (1994) Hum. Mol. Genet. 3, 1185.
N 1738 1 T E580X 1 Glu->Stop at codon 580 sporadic bilateral intraocular tumors early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
M 1903 1 C A635P 1 Ala->Pro at codon 635 sporadic bilateral intraocular tumors early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
M 1961 1 A V654E 1 Val->Glu at codon 654 sporadic bilateral intraocular tumors early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
M 2054 1 C Q685P 1 Gln->Pro at codon 685 sporadic bilateral intraocular tumors early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
FD 305 2   305delGT 1 frameshift at codon 102 sporadic bilateral intraocular tumors early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
FD 1121 2   1121delCA 1 frameshift at codon 374 sporadic bilateral intraocular tumors early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
FD 1262 1   1261delA 1 frameshift at codon 421 AD familial intraocular tumors early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
D 1704 3   1701delTTT 1 D of Leu at codon 569 sporadic bilateral intraocular tumors early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
FD 1859 2   1859delCG 1 frameshift at codon 621 sporadic bilateral intraocular tumors early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
FD 1884 2   1884delAG 1 frameshift at codon 629 AD familial intraocular tumors early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
FD 2331 1   2331delT 1 frameshift at codon 778 sporadic bilateral intraocular tumors early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
S 607+1 1 A 607+1G->A 1 loss of splice donor site sporadic bilateral intraocular tumors early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
R 380+12 1 C 380+12T->C 1 intron mutation sporadic bilateral intraocular tumors early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
R 380+45 1 T 380+45C->T 1 intron mutation sporadic unilateral intraocular tumor early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
R 862-27 1 C 862-27A->C 1 intron mutation sporadic bilateral intraocular tumors early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
R 1050-57 1 C 1050-57A->C 1 intron mutation sporadic unilateral intraocular tumor early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
R 1127+41 1 C 1127+41A->C 1 intron mutation sporadic bilateral intraocular tumors early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
R 1216-29 1 G 1216-29A->G 1 intron mutation sporadic bilateral intraocular tumors early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
DU 2713+187 4 GAAG 2713+188dupGAAG 1 intron mutation sporadic bilateral intraocular tumors early germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
P 1981 1 A 1981C->A 5% no amino acid change ND ND ND germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
P 264+76 1 T 264+76C->T 15% intron Pism ND ND ND germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
P 380+37 1 G 380+37A->G 5% intron Pism ND ND ND germinal Blanquet (1995) Hum. Mol. Genet. 4, 383.
FD 195 2   195delGA 1 frameshift at codon 65 sporadic unilateral intraocular tumor early germinal Blanquet (1993) Hum. Mol. Genet. 2, 975.
FD 288 2   288delGG 1 frameshift at codon 97 sporadic bilateral intraocular tumors early germinal Blanquet (1993) Hum. Mol. Genet. 2, 975.
S 265-3 1 C 265-3insC 1 loss of splice acceptor site sporadic unilateral intraocular tumor early germinal Blanquet (1993) Hum. Mol. Genet. 2, 975.
M 411 1 T E137D 1 Glu->Asp at codon 137 sporadic bilateral intraocular tumors early germinal Blanquet (1993) Hum. Mol. Genet. 2, 975.
FI 554 1 A 554insA 1 frameshift at codon 185 sporadic bilateral intraocular tumors early germinal Blanquet (1993) Hum. Mol. Genet. 2, 975.
S 540-1 1 A 540-1G->A 1 loss of splice acceptor site sporadic bilateral intraocular tumors early germinal Blanquet (1993) Hum. Mol. Genet. 2, 975.
FD 678 1   678delT 1 frameshift at codon 226 sporadic unilateral intraocular tumor early germinal Blanquet (1993) Hum. Mol. Genet. 2, 975.
S 862-10 1 C 862-10T->C 1 loss of splice acceptor site sporadic bilateral intraocular tumors early germinal Blanquet (1993) Hum. Mol. Genet. 2, 975.
FD 1707 1   1704delA 1 frameshift at codon 568 sporadic bilateral intraocular tumors early germinal Blanquet (1993) Hum. Mol. Genet. 2, 975.
S 1814+11 1 C 1814+11T->C 1 loss of splice donor site sporadic unilateral intraocular tumor early germinal Blanquet (1993) Hum. Mol. Genet. 2, 975.
N 296 1 A W99X 1 Trp->Stop at codon 98 AD familial intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 409 1 T E137X 1 Glu->Stop at codon 137 sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
P 1860 1 A 1860G->A 1 no amino acid change ND ND ND germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 751 1 T R251X 3 Arg->Stop at codon 251 sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 763 1 T R255X 1 Arg->Stop at codon 255 sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 796 1 T Q266X 1 Gln->Stop at codon 266 sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
ID 957 2 GT R320X 1 Arg->Stop at codon 320 sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 958 1 T R320X 1 Arg->Stop at codon 320 AD familial intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 958 1 T R320X 3 Arg->Stop at codon 320 sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 1060 1 T Q354X 1 Gln->Stop at codon 354 sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 1072 1 T R358X 4 Arg->Stop at codon 358 AD familial intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 1333 1 T R445X 3 Arg->Stop at codon 445 sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 1333 1 T R445X 1 Arg->Stop at codon 445 AD familial intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
P 380+10 1 G 380+10C->G 1 intron Pism ND ND ND germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 1363 1 T R455X 1 Arg->Stop at codon 455 sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 1399 1 T R467X 1 Arg->Stop at codon 467 sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 1399 1 T R467X 2 Arg->Stop at codon 467 AD familial intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 1654 1 T R552X 1 Arg->Stop at codon 552 sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 1659 1 A C553X 1 Cys->Stop at codon 553 AD familial intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 1660 1 T E554X 1 Glu->Stop at codon 554 AD familial intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 1723 1 T E575X 1 Glu->Stop at codon 575 AD familial intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 1735 1 T R579X 1 Arg->Stop at codon 579 sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 1735 1 T R579X 3 Arg->Stop at codon 579 AD familial intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 1901 1 G S634X 1 Ser->Stop at codon 634 sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 1915 1 T Q639X 1 Gln->Stop at codon 639 sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 2184 1 A Y728X 1 Tyr->Stop at codon 728 sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 2359 1 T R787X 3 Arg->Stop at codon 787 sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 2359 1 T R787X 1 Arg->Stop at codon 787 AD familial intraocular tumors, and fibrosarcoma early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 2447 1 G S816X 1 Ser->Stop at codon 816 sporadic bilateral intraocular tumors, and meningioma early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
S 607+1 1 T 607+1G->T 1 loss of splice donor site AD familial intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
S 607+1 1 C 607+1G->C 1 loss of splice donor site sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
S 940-1 1 C 940-1G->C 1 loss of splice acceptor site sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
S 1332+1 1 A 1332+1G->A 1 loss of splice donor site sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
S 1498+5 1 A 1498+5G->A 1 loss of splice donor site sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
S 1695+3 1 C 1695+3A->C 1 loss of splice donor site sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
S 1814+1 1 C 1814+1G->C 1 loss of splice donor site sporadic bilateral intraocular tumors, and leiomyosarcoma early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
FD 1450 2   1450delAT 1 frameshift at codon 484 sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
FD 1490 2   1490delCA 1 frameshift at codon 497 sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
FD 1534 1   1534delT 1 frameshift at codon 512 sporadic bilateral intraocular tumors early germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
P 2212-11 1   2212-11T->A 1 intron Pism ND ND ND germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
N 763 1 T R255X 2 Arg->Stop at codon 255 AD familial intraocular tumors early germinal Blanquet (1994) Hum. Mol. Genet. 3, 1185.
N 763 1 T R255X 4 Arg->Stop at codon 255 sporadic bilateral intraocular tumors early germinal Blanquet (1994) Hum. Mol. Genet. 3, 1185.
S 1696-1 1 A 1696-1G->A 2 loss of splice acceptor site sporadic bilateral intraocular tumors early germinal Blanquet (1994) Hum. Mol. Genet. 3, 1185.
N 1735 1 T R579X 2 Arg->Stop at codon 579 sporadic bilateral intraocular tumors early germinal Blanquet (1994) Hum. Mol. Genet. 3, 1185.
N 2284 1 T Q762X 1 Gln->Stop at codon 762 sporadic bilateral intraocular tumors early germinal Orsouw (1996) Hum. Mol. Genet. 5, 755.
N 1399 1 T R467X 1 Arg->Stop at codon 467 sporadic bilateral intraocular tumors early germinal Orsouw (1996) Hum. Mol. Genet. 5, 755.
N 1190 1 A S397X 1 Ser->Stop at codon 397 sporadic bilateral intraocular tumors early germinal Orsouw (1996) Hum. Mol. Genet. 5, 755.
N 1735 1 T R579X 1 Arg->Stop at codon 579 sporadic bilateral intraocular tumors early germinal Orsouw (1996) Hum. Mol. Genet. 5, 755.
N 763 1 T R255X 1 Arg->Stop at codon 255 sporadic bilateral intraocular tumors early germinal Orsouw (1996) Hum. Mol. Genet. 5, 755.
M 1970 1 C L657P 1 Leu->Pro at codon 657 sporadic bilateral intraocular tumors early germinal Orsouw (1996) Hum. Mol. Genet. 5, 755.
N 619 1 T Q207X 1 Gln->Stop at codon 207 sporadic bilateral intraocular tumors early germinal Orsouw (1996) Hum. Mol. Genet. 5, 755.
M 1072 1 G R358G 1 Arg->Gly at codon 358 sporadic bilateral intraocular tumors early germinal Orsouw (1996) Hum. Mol. Genet. 5, 755.
M 1981 1 T R661W 1 Arg->Trp at codon 661 sporadic bilateral intraocular tumors early germinal Orsouw (1996) Hum. Mol. Genet. 5, 755.
N 2359 1 T R787X 1 Arg->Stop at codon 787 sporadic bilateral intraocular tumors early germinal Orsouw (1996) Hum. Mol. Genet. 5, 755.
N 958 1 T R320X 1 Arg->Stop at codon 320 sporadic bilateral intraocular tumors early germinal Orsouw (1996) Hum. Mol. Genet. 5, 755.
N 751 1 T R251X 1 Arg->Stop at codon 251 sporadic bilateral intraocular tumors early germinal Orsouw (1996) Hum. Mol. Genet. 5, 755.
N 1333 1 T R445X 1 Arg->Stop at codon 445 sporadic bilateral intraocular tumors early germinal Yandell (1989) N. Engl. J. Med. 321, 1689.
M 1700 1 T S567L 1 Ser->Leu at codon 567 sporadic bilateral intraocular tumors early germinal Yandell (1989) N. Engl. J. Med. 321, 1689.
N 2359 1 T R787X 1 Arg->Stop at codon 787 sporadic bilateral intraocular tumors early germinal Yandell (1989) N. Engl. J. Med. 321, 1689.
M 1981 1 T R661W 1 Arg->Trp at codon 661 AD low-penetrant familial intraocular tumors early germinal Onadim (1992) Proc. Natl. Acad. Sci. USA 89, 6177.
M 2023 1 T Q675X 1 Gln->Stop at codon 675 AD low-penetrant familial intraocular tumors early germinal Onadim (1992) Proc. Natl. Acad. Sci. USA 89, 6177.
FI 195 1 A 195insA 1 framesfift at codon 66 sporadic bilateral intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FD 401 4   401delTACT 1 Leu->Stop at codon 134 AD familial intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
DU 478 4 TTTG 479dupTTTG 1 frameshift at codon 160 sporadic bilateral intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FI 529 5 CCCAA 529insCCCAA 1 frameshift at codon 178 AD familial intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FD 767 1   767delG 1 frameshift at codon 256 sporadic bilateral intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FD 777 1   777delG 1 frameshift at codon 260 AD familial intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FD 908 1   908delT 1 frameshift at codon 304 AD familial intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FI 1088 1 G 1088insG 1 frameshift at codon 363 sporadic bilateral intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FD 1091 1   1091delA 1 frameshift at codon 365 AD familial intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FI 1161 1 T 1161insT 1 frameshift at codon 387 sporadic bilateral intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FD 1237 1   1237delG 1 frameshift at codon 413 AD familial intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FD 1455 4   1455delTTTA 1 frameshift at codon 486 sporadic bilateral intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FD 1501 1   1501delA 1 frameshift at codon 501 AD familial intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
D 1618 18   1618del18bp 1 D of GlyAsnLeuThrArgGlu at codons 540-545 sporadic bilateral intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FI 1812 2 GA 1812insGA 1 frameshift at codon 604 AD familial intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FD 1828 2   1828delGT 1 frameshift at codon 610 AD familial intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FD 1937 1   1937delC 1 frameshift at codon 646 AD familial intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
S 1960+1 1   1960+1delG 1 loss of splice donor site sporadic bilateral intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FD 2175 or 2176 1   2175delA 1 frameshift at codon 726 AD familial intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FD 2196 1   2196delT 1 frameshift at codon 733 AD familial intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FI 2201 1 G 2201insG 1 frameshift at codon 734 AD familial intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
D 2263 3   2263delTTC 1 D of Phe at codon 755 sporadic bilateral intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FD 2330 1   2330delC 1 frameshift at codon 777 sporadic bilateral intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FD 2415 1   2415delT 1 Tyr->Stop at codon 805 sporadic bilateral intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FD 2415 1   2415delT 1 Tyr->Stop at codon 805 AD familial intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
FD 2425 1   2415delC 1 Leu->Stop at codon 809 AD familial intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
S 2520+1 4   2520+1delGTGA 1 loss of splice donor site sporadic bilateral intraocular tumors early germinal Lohmann (1994) Hum. Mol. Genet. 3, 2187.
D 1438 3   1438delAAC 1 D of Asn at codon 480 AD low-penetrant familial intraocular tumors early germinal Lohmann (1992) Hum. Genet. 89, 49.
FD 2051 1   2051delT 1 frameshift at codon 684 AD familial intraocular tumors early germinal Lohmann (1992) Hum. Genet. 89, 49.
FD 2380 10   2380del10bp 1 frameshift at codon 794 sporadic bilateral intraocular tumors early germinal Lohmann (1992) Hum. Genet. 89, 49.
DU 703 4 GTTG 703dupGTTG 1 frameshift at codon 235 sporadic bilateral intraocular tumors early germinal Szijan (1995) J. Med. Genet. 32, 475.
N 1735 1 C R579X 1 Arg->Stop at codon 579 sporadic bilateral intraocular tumors early germinal Szijan (1995) J. Med. Genet. 32, 475.
FD 1938 2   1938delTC 1 frameshift at codon 647 sporadic bilateral intraocular tumors early germinal Szijan (1995) J. Med. Genet. 32, 475.
FD 2088 1   2088delA 1 frameshift at codon 697 sporadic bilateral intraocular tumors early germinal Szijan (1995) J. Med. Genet. 32, 475.
N 751 1 T R251X 4 Arg->Stop at codon 251 AD familial intraocular tumors early germinal Cowell (1994) Eur. J. Hum. Genet. 2, 281.
N 751 1 T R251X 3 Arg->Stop at codon 251 sporadic bilateral intraocular tumors early germinal Cowell (1994) Eur. J. Hum. Genet. 2, 281.
N 763 1 T R255X 1 Arg->Stop at codon 255 sporadic bilateral intraocular tumors early germinal Cowell (1994) Eur. J. Hum. Genet. 2, 281.
N 958 1 T R320X 1 Arg->Stop at codon 320 sporadic bilateral intraocular tumors early germinal Cowell (1994) Eur. J. Hum. Genet. 2, 281.
N 1654 1 T R552X 4 Arg->Stop at codon 552 sporadic bilateral intraocular tumors early germinal Cowell (1994) Eur. J. Hum. Genet. 2, 281.
N 1666 1 T R556X 1 Arg->Stop at codon 556 sporadic bilateral intraocular tumors early germinal Cowell (1994) Eur. J. Hum. Genet. 2, 281.
N 1735 1 T R579X 3 Arg->Stop at codon 579 sporadic bilateral intraocular tumors early germinal Cowell (1994) Eur. J. Hum. Genet. 2, 281.
N 2359 1 T R787X 1 Arg->Stop at codon 787 sporadic bilateral intraocular tumors early germinal Cowell (1994) Eur. J. Hum. Genet. 2, 281.
M 1589 1 G K530R 1 Lys->Arg at codon 530 sporadic bilateral intraocular tumors early germinal Cowell (1994) Eur. J. Hum. Genet. 2, 281.
S 1039 14   1039del14bp 1 loss of splice donor site sporadic bilateral intraocular tumors early germinal Cowell (1994) Eur. J. Hum. Genet. 2, 281.
FD 1760 10   1760del10bp 1 frameshift at codon 587 sporadic bilateral intraocular tumors early germinal Cowell (1994) Eur. J. Hum. Genet. 2, 281.
DU 1737 7 AGGACCG 1737dup7 1 frameshift at codon 580 sporadic bilateral intraocular tumors early germinal Cowell (1994) Eur. J. Hum. Genet. 2, 281.
S 1695-1 1 A 1695-1G->A 1 loss of splice acceptor site sporadic bilateral intraocular tumors early germinal Cowell (1994) Eur. J. Hum. Genet. 2, 281.
M 2117 1 A C706Y 1 Cys->Tyr at codon 706 sporadic bilateral intraocular tumors early germinal Kato (1994) Hum. Mutat. 3, 44.
S 1332+1 1 T 1332+1G->T 1 D of exon 13 sporadic bilateral intraocular tumors early germinal Kato (1994) Hum. Mutat. 3, 44.
D   1.7k   DelEx24 1 D of exon 24 AD familial intraocular tumors early germinal Kato (1994) Hum. Mutat. 3, 44.
D   5.3k   DelEx18-19 1 D of exons 18 and 19 AD familial intraocular tumors early germinal Kato (1994) Hum. Mutat. 3, 44.
DU 1033 55   duplication of nucleotides 979 to 1033 1 frameshift at codon 345 sporadic bilateral intraocular tumors early germinal Dunn (1989) Mol. Cell. Biol. 9, 4596.
FD 1760 10   1760del10bp 1 frameshift at codon 587 sporadic bilateral intraocular tumors early germinal Dunn (1989) Mol. Cell. Biol. 9, 4596.
FD 1949 9   1949del9 1 Phe->Stop at codon 650 sporadic bilateral intraocular tumors early germinal Dunn (1989) Mol. Cell. Biol. 9, 4596.
S 2212-1 1 A 2212-1G->A 1 D of exon 22 sporadic bilateral intraocular tumors early germinal Dunn (1989) Mol. Cell. Biol. 9, 4596.
S 1215+1 1 A 1215+1G->A 2 D of exon 12 AD unilateral intraocular tumor early germinal Dunn (1989) Mol. Cell. Biol. 9, 4596.
M 2117 1 T C706F 1 Cys->Phe at codon 706 ND small-cell lung cancer ND ND Kaye (1990) Proc. Natl. Acad. Sci. USA 87, 6922.
FD 2520 1   2520delG 1 frameshift at codon 841 nonhereditary bilatertal intraocular tumors early somatic Yandell (1989) N. Engl. J. Med. 321, 1689.
S 1960+2 1 C 1960+2T->C 1 loss of splice donor site nonhereditary unilateral intraocular tumor early somatic Yandell (1989) N. Engl. J. Med. 321, 1689.
FD 2244 1   2244delG 1 frameshift at codon 748 nonhereditary unilateral intraocular tumor early somatic Yandell (1989) N. Engl. J. Med. 321, 1689.
S 1049+1 1 T 1049+1G->T 1 loss of splice donor site nonhereditary unilateral intraocular tumor early somatic Yandell (1989) N. Engl. J. Med. 321, 1689.
N 1072 1 T R358X 1 Arg->Stop at codon 358 ND intraocular tumor early ND Yandell (1989) N. Engl. J. Med. 321, 1689.
S 2107-2 1 G 2107-2A->G 1 D of exon 21 ND bladder cancer ND ND Horowitz (1989) Science 243, 937.
N 2242 1 T E748X 1 Glu->Stop at codon 748 ND small-cell lung cancer ND ND Yandell (1989) N. Engl. J. Med. 321, 1689.
S 2106+5 1 A 2106+5G->A 1 D of exon 21 AD familial intraocular tumors, and small-cell lung cancer early germinal Weir-Thompson (1991) Oncogene 6, 2353.
S 2211 1 A 2211G->A 1 D of exon 21 AD low-penetrant familial intraocular tumors early germinal Schubert (1997) Hum. Genet. 100, 557.
PR -149 1 C -149G->C 1 promoter mutation AD low-penetrant familial intraocular tumors early germinal Cowell (1996) Oncogene 12, 431.
PR -189 1 T -189G->T 1 promoter mutation AD familial unilateral intraocular tumor early germinal Sakai (1991) Nature 353, 83.
PR -198 1 A -198G->A 1 promoter mutation AD familial intraocular tumors early germinal Sakai (1991) Nature 353, 83.
FID 1504 21 TCTCAAGAAT CTCAAGAATCA 1504del7bpins21bp 1 frameshift at codon 502 sporadic bilateral intraocular tumors early somatic Shimizu (1994) Am. J. Hum. Genet. 54, 793.
S 1050-2 1 G 1050-2A->G 1 loss of splice acceptor site sporadic bilateral intraocular tumors early germinal Shimizu (1994) Am. J. Hum. Genet. 54, 793.
S 1695+6 1 G 1695+6T->G 1 loss of splice donor site sporadic bilateral intraocular tumors early germinal Shimizu (1994) Am. J. Hum. Genet. 54, 793.
FD 1330 1   1330delC 1 frameshift at codon 444 sporadic bilateral intraocular tumors early germinal Shimizu (1994) Am. J. Hum. Genet. 54, 793.
N 1150 1 T Q384X 1 Gln->Stop at codon 384 sporadic bilateral intraocular tumors early germinal Shimizu (1994) Am. J. Hum. Genet. 54, 793.
N 1363 1 T R455X 1 Arg->Stop at codon 455 sporadic unilateral intraocular tumor early germinal Shimizu (1994) Am. J. Hum. Genet. 54, 793.
FD 1236 1   1236delA 1 frameshift at codon 413 sporadic unilateral intraocular tumor early somatic Shimizu (1994) Am. J. Hum. Genet. 54, 793.
N 1467 1 A C489X 1 Cys->Stop at codon 489 sporadic unilateral intraocular tumor early germinal Shimizu (1994) Am. J. Hum. Genet. 54, 793.
N 1166 1 A L389X 1 Leu->Stop at codon 389 sporadic unilateral intraocular tumor early germinal Shimizu (1994) Am. J. Hum. Genet. 54, 793.
FD 1939 2   1939delCT 1 frameshift at codon 647 sporadic unilateral intraocular tumor early germinal Shimizu (1994) Am. J. Hum. Genet. 54, 793.
D   4k   DelEx24-25 1 D of codons 830-887 AD low-penetrant familial intraocular tumors early germinal Bremner (1997) Am. J. Hum. Genet. 61, 556.
N 1666 1 T R556X 1 Arg->Stop at codon 556 sporadic bilateral intraocular and pineal tumors early germinal Onadim (1997) Br. J. Cancer 76, 1405.
M 1981 1 T R661W 2 Arg->Trp at codon 661 AD low-penetrant familial intraocular tumors early germinal Lohmann (1994) Hum. Genet. 94, 349.
D 380+415 4.5k   DelEx4 1 D of codons 127-166 AD low-penetrant familial intraocular tumors early germinal Dryja (1993) Am. J. Hum. Genet. 52. 1122.
FD 2497 1   2497delG 1 frameshift at codon 833 sporadic bilateral intraocular tumors early germinal Shimizu (1994) Am. J. Hum. Genet. 54, 793.
FI 211 1 G 211insG 1 frameshift at codon 71 sporadic unilateral intraocular tumor early germinal Shimizu (1994) Am. J. Hum. Genet. 54, 793.
FI 2311 1 T 2311insT 1 frameshift at codon 771 sporadic unilateral intraocular tumor early germinal Shimizu (1994) Am. J. Hum. Genet. 54, 793.
DU 1417 4 AAAT 1417dupAAAT 1 frameshift at codon 473 sporadic unilateral intraocular tumor early germinal Shimizu (1994) Am. J. Hum. Genet. 54, 793.
P 1390-17 1 T 1390-17insT 1 intron Pism ND ND ND germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
P 608-24 1 A 608-24T->A 1 intron Pism ND ND ND germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
P 1390-25 1 G 1390-25T->G 1 intron Pism ND ND ND germinal Lohmann (1996) Am. J. Hum. Genet. 58, 940.
S 1811 1 G 1811A->G 1 loss of splice donor site sporadic bilateral intraocular tumors early germinal Orsouw (1996) Hum. Mol. Genet. 5, 755.
S 1696 1 A 1696G->A 1 loss of splice acceptor site sporadic bilateral intraocular tumors early germinal Orsouw (1996) Hum. Mol. Genet. 5, 755.
D 1438 3   1438delAAC 1 D of codon 480 AD low-penetrant familial intraocular tumors early germinal Lohmann (1994) Hum. Genet. 94, 349.
N 763 1 T R255X 1 Arg->Stop at codon 255 AD familial intraocular tumors, and pinealoblastoma early germinal Blanquet (1994) Hum. Mol. Genet. 3, 1185.
S 1216-2 1 G 1216-2A->G 1 loss of splice acceptor site sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
M 1981 1 T R661W 1 Arg->Trp at codon 661 sporadic unilateral intraocular tumor early germinal Lohmann (1997) Am. J. Hum. Genet. 61, 282.
FD 370 2   370delAT 1 frameshift at codon 123 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
N 1333 1   R445X 1 Arg->Stop at codon 445 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
S 1216-1 1 A 1216-1G->A 1 loss of splice acceptor site sporadic unilateral intraocular tumor early germinal Lohmann (1997) Am. J. Hum. Genet. 61, 282.
N 1654 1 T R552X 1 Arg->Stop at codon 552 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
N 1666 1 T R556X 1 Arg->Stop at codon 556 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
S 1215+1 1 A 1215+1G->A 2 loss of splice donor site sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
S 380+1 1 T 380+1G->T 1 loss of splice donor site sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
N 2158 1 T K720X 1 Lys->Stop at codon 720 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
N 409 1 T E137X 1 Glu->Stop at codon 137 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
N 2359 1 T R787X 1 Arg->Stop at codon 787 sporadic unilateral intraocular tumor early germinal Lohmann (1997) Am. J. Hum. Genet. 61, 282.
M 411 1 T E137D 1 Glu->Asp at codon 137 sporadic unilateral intraocular tumor early germinal Lohmann (1997) Am. J. Hum. Genet. 61, 282.
S 1332 1 A 1332G->A 1 loss of splice donor site sporadic unilateral intraocular tumor early germinal Lohmann (1997) Am. J. Hum. Genet. 61, 282.
N 958 1 T R320X 1 Arg->Stop at codon 320 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
N 1735 1 T R579X 1 Arg->Stop at codon 579 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
N 184 1 T Q62X 1 Gln->Stop at codon 62 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
N 1654 1 T R552X 1 Arg->Stop at codon 552 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
S 1960+1 1 A 1960+1G->A 1 loss of splice donor site sporadic multifocal unilateral intraocular tumors early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
N 409 1 T E137X 1 Glu->Stop at codon 137 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
FD 1735 10   1735del10bp 1 frameshift at codon 579 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
N 1363 1 T R455X 1 Arg->Stop at codon 455 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
FD 1447 2   1447delCA 1 frameshift at codon 483 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
N 958 1 T R320X 1 Arg->Stop at codon 320 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
FD 2084 1   2084delT 1 frameshift at codon 695 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
FD 336 5   336del5 1 frameshift at codon 112 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
N 958 1 T R320X 1 Arg->Stop at codon 320 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
N 1666 1 T R556X 1 Arg->Stop at codon 556 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
N 751 1 T R251X 1 Arg->Stop at codon 251 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
N 958 1 T R320X 1 Arg->Stop at codon 320 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
FI 1585 1 T 1585insT 1 frameshift at codon 529 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
FD 1723 4   1723del4 1 frameshift at codon 575 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
FI 1816 1 T 1816insT 1 frameshift at codon 606 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
FD 227 1   227delT 1 termination at codon 76 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
N 958 1 T R320X 1 Arg->Stop at codon 320 sporadic unilateral intraocular tumor early germinal Lohmann (1997) Am. J. Hum. Genet. 61, 282.
N 1072 1 T R358X 1 Arg->Stop at codon 358 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.
N 1494 1 A Y498X 1 Tyr->Stop at codon 498 sporadic unilateral intraocular tumor early somatic Lohmann (1997) Am. J. Hum. Genet. 61, 282.

*1 Abbreviations are as follows: M, Missense; N, Nonsense; P, Polymorphism; D, Deletion; FD, Frameshift Deletion; FI, Frameshift Insertion; ID, Insertion Deletion; FID, Frameshift Insertion Deletion; S, Splicing; R, Regulation; DU, Duplication; PR, Promoter.
*2 Abbreviations are as follows: AD, Autosomal Dominant; ND, Not Described.








Last updated 16 Nov 1998