LOCUS HUMRB1MRNA 4839 bp mRNA linear HUM 05-MAY-1995 DEFINITION Homo sapiens retinoblastoma susceptibility protein (RB1) mRNA and mutations. ACCESSION L41870 VERSION L41870.1 KEYWORDS retinoblastoma protein; retinoblastoma susceptibility. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (sites) AUTHORS McGee,T.L., Yandell,D.W. and Dryja,T.P. TITLE Structure and partial genomic sequence of the human retinoblastoma susceptibility gene JOURNAL Gene 80 (1), 119-128 (1989) PUBMED 2701949 REFERENCE 2 (sites) AUTHORS Hogg,A., Onadim,Z., Baird,P.N. and Cowell,J.K. TITLE Detection of heterozygous mutations in the RB1 gene in retinoblastoma patients using single-strand conformation polymorphism analysis and polymerase chain reaction sequencing JOURNAL Oncogene 7 (7), 1445-1451 (1992) PUBMED 1352398 REFERENCE 3 (sites) AUTHORS Onadim,Z., Hogg,A., Baird,P.N. and Cowell,J.K. TITLE Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype JOURNAL Proc. Natl. Acad. Sci. U.S.A. 89 (13), 6177-6181 (1992) PUBMED 1352883 REFERENCE 4 (sites) AUTHORS Onadim,Z., Hogg,A. and Cowell,J.K. TITLE Mechanisms of oncogenesis in patients with familial retinoblastoma JOURNAL Br. J. Cancer 68 (5), 958-964 (1993) PUBMED 8217609 REFERENCE 5 (sites) AUTHORS Hogg,A., Bia,B., Onadim,Z. and Cowell,J.K. TITLE Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma JOURNAL Proc. Natl. Acad. Sci. U.S.A. 90 (15), 7351-7355 (1993) PUBMED 8346255 REFERENCE 6 (sites) AUTHORS Kratzke,R.A., Otterson,G.A., Hogg,A., Coxon,A.B., Geradts,J., Cowell,J.K. and Kaye,F.J. TITLE Partial inactivation of the RB product in a family with incomplete penetrance of familial retinoblastoma and benign retinal tumors JOURNAL Oncogene 9 (5), 1321-1326 (1994) PUBMED 8152792 COMMENT Original source text: Homo sapiens cDNA to mRNA. Mutation data provided by Dr. B.L.Gallie, Hospital for Sick Children 555 Univ. Ave. Toronto ONT W5G 1X8 Canada Ph: 416 813-5868 FAX: 416 813-4989 E-mail: brenda@hafiz.eric.on.ca. FEATURES Location/Qualifiers source 1..4839 /db_xref="H-InvDB:HIT000193791" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /map="13q14.2" gene 1..4839 /gene="RB1" exon 1..274 /gene="RB1" /note="G00-118-734" /number=1 CDS 138..2924 /gene="RB1" /codon_start=1 /product="retinoblastoma suspectibility protein" /protein_id="AAB59465.1" /db_xref="GDB:G00-118-734" /translation="MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPL VRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEKVSSVDGVLGGYIQKKKELWGIC IFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFA LFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQL MLCVLDYFIKLSPPMLLKEPYKTAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEV LCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDAR LFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSA SDQPSENLISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGV RLYYRVMESMLKSEEERLSIQNFSKLLNDNIFHMSLLACALEVVMATYSRSTSQNLDS GTDLSFPWILNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMESLAWLSD SPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNS TANAETQATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWT LFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLKFKIIVTAYKDLPHAVQETFK RVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLR IPGGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSD RVLKRSAEGSNPPKPLKKLRFDIEGSDEADGSKHLPGESKFQQKLAEMTSTRTRMQKQ KMNDSMDTSNKEEK" variation 179 /gene="RB1" /note="Tumor GOS19 unilateral mutation causing a tentative wrong splice; G00-118-734" /citation=[5] /replace="t" exon 275..401 /gene="RB1" /note="G00-118-734" /number=2 exon 402..517 /gene="RB1" /note="G00-118-734" /number=3 variation 506..509 /gene="RB1" /note="RBF64 bilateral familial deletion mutation causing premature stop" /replace="ca" exon 518..637 /gene="RB1" /note="G00-118-734" /number=4 variation 537..542 /gene="RB1" /note="Tumor GOS561 unilateral frameshift mutation causing premature stop" /citation=[5] /replace="ta" variation 621..622 /gene="RB1" /note="Tumor GOS537 bilateral frameshift mutation causing premature stop.; G00-118-734" /citation=[5] /replace="c" exon 638..676 /gene="RB1" /note="G00-118-734" /number=5 exon 677..744 /gene="RB1" /note="G00-118-734" /number=6 exon 745..855 /gene="RB1" /note="G00-118-734" /number=7 exon 856..998 /gene="RB1" /note="G00-118-734" /number=8 exon 999..1076 /gene="RB1" /note="G00-118-734" /number=9 exon 1077..1186 /gene="RB1" /note="G00-118-734" /number=10 variation 1095 /gene="RB1" /note="Tumor GOS559 mutation causing premature stop.; G00-118-734" /citation=[5] /replace="t" variation 1104 /gene="RB1" /note="Tumor GOS563 unilateral mutation causing premature stop; G00-118-734" /citation=[5] /replace="t" exon 1187..1264 /gene="RB1" /note="G00-118-734" /number=11 variation 1209 /gene="RB1" /note="Tumor GOS159 unilateral mutation causing a premature stop; G00-118-734" /citation=[5] /replace="t" exon 1265..1352 /gene="RB1" /note="G00-118-734" /number=12 variation 1320 /gene="RB1" /note="Tumor GOS559 mutation causing premature stop.; G00-118-734" /citation=[5] /replace="t" variation 1352..1375 /gene="RB1" /note="Tumor GOS13 unilateral frameshift mutation resulting in premature stop; Associated with this mutation is a large 13q14.3 sub-band deletion; G00-118-734" /citation=[5] /replace="ca" exon 1353..1469 /gene="RB1" /note="G00-118-734" /number=13 variation 1400..1401 /gene="RB1" /note="RBF58 insertion mutation causing premature stop; G00-118-734" /citation=[4] /replace="taa" exon 1470..1526 /gene="RB1" /note="G00-118-734" /number=14 variation 1500 /gene="RB1" /note="Tumor GOS159 unilateral mutation causing a premature stop; G00-118-734" /citation=[5] /replace="t" variation 1507 /gene="RB1" /note="Tumor GOS109 bilateral mutation causes new splice acceptor causing premature stop; G00-118-734" /citation=[5] /replace="g" exon 1527..1558 /gene="RB1" /note="G00-118-734" /number=15 variation 1575..1576 /gene="RB1" /note="Tumor GOS568 unilateral insetion mutation causing premature stop; G00-118-734" /citation=[5] /replace="aaa" exon 1636..1832 /gene="RB1" /note="G00-118-734" /number=17 variation 1766..1768 /gene="RB1" /note="RBF59 deletion mutation causing premature stop." /citation=[4] /replace="ag" variation 1791 /gene="RB1" /note="Tumor GOS563 unilateral mutation causing premature stop; G00-118-734" /citation=[5] /replace="t" variation 1803 /gene="RB1" /note="Tumor GOS561 mutation causing premature stop; G00-118-734" /citation=[5] /replace="t" exon 1833..1951 /gene="RB1" /note="G00-118-734" /number=18 variation 2072..2075 /gene="RB1" /note="Tumor GOS45 unilateral frame shift mutation causing a premature stop; G00-118-734" /citation=[5] /replace="ct" exon 2098..2243 /gene="RB1" /note="G00-118-734" /number=20 variation 2118 /gene="RB1" /note="Substitution mutation (no tumor) in RBF29; G00-118-734" /citation=[3] /citation=[6] /replace="t" variation 2149..2150 /gene="RB1" /note="Germline bilateral familial frameshift mutation causing premature stop in DNA of patient S.T.; G00-118-734" /citation=[2] /replace="ctt" variation 2160 /gene="RB1" /note="Unilateral low penetrance familial retinoma RBF18 mutation; G00-118-734" /citation=[3] /replace="t" exon 2244..2348 /gene="RB1" /note="G00-118-734" /number=21 exon 2349..2462 /gene="RB1" /note="G00-118-734" /number=22 exon 2627..2657 /gene="RB1" /note="G00-118-734" /number=24 exon 2658..2800 /gene="RB1" /note="G00-118-734" /number=25 exon 2801..2850 /gene="RB1" /note="G00-118-734" /number=26 exon 2851..4839 /gene="RB1" /note="G00-118-734" /number=27 BASE COUNT 1534 a 902 c 880 g 1523 t ORIGIN 1 tccggttttt ctcaggggac gttgaaatta tttttgtaac gggagtcggg agaggacggg 61 gcgtgccccg cgtgcgcgcg cgtcgtcctc cccggcgctc ctccacagct cgctggctcc 121 cgccgcggaa aggcgtcatg ccgcccaaaa ccccccgaaa aacggccgcc accgccgccg 181 ctgccgccgc ggaacccccg gcaccgccgc cgccgccccc tcctgaggag gacccagagc 241 aggacagcgg cccggaggac ctgcctctcg tcaggcttga gtttgaagaa acagaagaac 301 ctgattttac tgcattatgt cagaaattaa agataccaga tcatgtcaga gagagagctt 361 ggttaacttg ggagaaagtt tcatctgtgg atggagtatt gggaggttat attcaaaaga 421 aaaaggaact gtggggaatc tgtatcttta ttgcagcagt tgacctagat gagatgtcgt 481 tcacttttac tgagctacag aaaaacatag aaatcagtgt ccataaattc tttaacttac 541 taaaagaaat tgataccagt accaaagttg ataatgctat gtcaagactg ttgaagaagt 601 atgatgtatt gtttgcactc ttcagcaaat tggaaaggac atgtgaactt atatatttga 661 cacaacccag cagttcgata tctactgaaa taaattctgc attggtgcta aaagtttctt 721 ggatcacatt tttattagct aaaggggaag tattacaaat ggaagatgat ctggtgattt 781 catttcagtt aatgctatgt gtccttgact attttattaa actctcacct cccatgttgc 841 tcaaagaacc atataaaaca gctgttatac ccattaatgg ttcacctcga acacccaggc 901 gaggtcagaa caggagtgca cggatagcaa aacaactaga aaatgataca agaattattg 961 aagttctctg taaagaacat gaatgtaata tagatgaggt gaaaaatgtt tatttcaaaa 1021 attttatacc ttttatgaat tctcttggac ttgtaacatc taatggactt ccagaggttg 1081 aaaatctttc taaacgatac gaagaaattt atcttaaaaa taaagatcta gatgcaagat 1141 tatttttgga tcatgataaa actcttcaga ctgattctat agacagtttt gaaacacaga 1201 gaacaccacg aaaaagtaac cttgatgaag aggtgaatgt aattcctcca cacactccag 1261 ttaggactgt tatgaacact atccaacaat taatgatgat tttaaattca gcaagtgatc 1321 aaccttcaga aaatctgatt tcctatttta acaactgcac agtgaatcca aaagaaagta 1381 tactgaaaag agtgaaggat ataggataca tctttaaaga gaaatttgct aaagctgtgg 1441 gacagggttg tgtcgaaatt ggatcacagc gatacaaact tggagttcgc ttgtattacc 1501 gagtaatgga atccatgctt aaatcagaag aagaacgatt atccattcaa aattttagca 1561 aacttctgaa tgacaacatt tttcatatgt ctttattggc gtgcgctctt gaggttgtaa 1621 tggccacata tagcagaagt acatctcaga atcttgattc tggaacagat ttgtctttcc 1681 catggattct gaatgtgctt aatttaaaag cctttgattt ttacaaagtg atcgaaagtt 1741 ttatcaaagc agaaggcaac ttgacaagag aaatgataaa acatttagaa cgatgtgaac 1801 atcgaatcat ggaatccctt gcatggctct cagattcacc tttatttgat cttattaaac 1861 aatcaaagga ccgagaagga ccaactgatc accttgaatc tgcttgtcct cttaatcttc 1921 ctctccagaa taatcacact gcagcagata tgtatctttc tcctgtaaga tctccaaaga 1981 aaaaaggttc aactacgcgt gtaaattcta ctgcaaatgc agagacacaa gcaacctcag 2041 ccttccagac ccagaagcca ttgaaatcta cctctctttc actgttttat aaaaaagtgt 2101 atcggctagc ctatctccgg ctaaatacac tttgtgaacg ccttctgtct gagcacccag 2161 aattagaaca tatcatctgg acccttttcc agcacaccct gcagaatgag tatgaactca 2221 tgagagacag gcatttggac caaattatga tgtgttccat gtatggcata tgcaaagtga 2281 agaatataga ccttaaattc aaaatcattg taacagcata caaggatctt cctcatgctg 2341 ttcaggagac attcaaacgt gttttgatca aagaagagga gtatgattct attatagtat 2401 tctataactc ggtcttcatg cagagactga aaacaaatat tttgcagtat gcttccacca 2461 ggccccctac cttgtcacca atacctcaca ttcctcgaag cccttacaag tttcctagtt 2521 cacccttacg gattcctgga gggaacatct atatttcacc cctgaagagt ccatataaaa 2581 tttcagaagg tctgccaaca ccaacaaaaa tgactccaag atcaagaatc ttagtatcaa 2641 ttggtgaatc attcgggact tctgagaagt tccagaaaat aaatcagatg gtatgtaaca 2701 gcgaccgtgt gctcaaaaga agtgctgaag gaagcaaccc tcctaaacca ctgaaaaaac 2761 tacgctttga tattgaagga tcagatgaag cagatggaag taaacatctc ccaggagagt 2821 ccaaatttca gcagaaactg gcagaaatga cttctactcg aacacgaatg caaaagcaga 2881 aaatgaatga tagcatggat acctcaaaca aggaagagaa atgaggatct caggaccttg 2941 gtggacactg tgtacacctc tggattcatt gtctctcaca gatgtgactg tataactttc 3001 ccaggttctg tttatggcca catttaatat cttcagctct ttttgtggat ataaaatgtg 3061 cagatgcaat tgtttgggtg attcctaagc cacttgaaat gttagtcatt gttatttata 3121 caagattgaa aatcttgtgt aaatcctgcc atttaaaaag ttgtagcaga ttgtttcctc 3181 ttccaaagta aaattgctgt gctttatgga tagtaagaat ggccctagag tgggagtcct 3241 gataacccag gcctgtctga ctactttgcc ttcttttgta gcatataggt gatgtttgct 3301 cttgttttta ttaatttata tgtatatttt tttaatttaa catgaacacc cttagaaaat 3361 gtgtcctatc tatcttccaa atgcaatttg attgactgcc cattcaccaa aattatcctg 3421 aactcttctg caaaaatgga tattattaga aattagaaaa aaattactaa ttttacacat 3481 tagattttat tttactattg gaatctgata tactgtgtgc ttgttttata aaattttgct 3541 tttaattaaa taaaagctgg aagcaaagta taaccatatg atactatcat actactgaaa 3601 cagatttcat acctcagaat gtaaaagaac ttactgatta ttttcttcat ccaacttatg 3661 tttttaaatg aggattattg atagtactct tggtttttat accattcaga tcactgaatt 3721 tataaagtac ccatctagta cttgaaaaag taaagtgttc tgccagatct taggtataga 3781 ggaccctaac acagtatatc ccaagtgcac tttctaatgt ttctgggtcc tgaagaatta 3841 agatacaaat taattttact ccataaacag actgttaatt ataggagcct taattttttt 3901 ttcatagaga tttgtctaat tgcatctcaa aattattctg ccctccttaa tttgggaagg 3961 tttgtgtttt ctctggaatg gtacatgtct tccatgtatc ttttgaactg gcaattgtct 4021 atttatcttt tattttttta agtcagtatg gtctaacact ggcatgttca aagccacatt 4081 atttctagtc caaaattaca agtaatcaag ggtcattatg ggttaggcat taatgtttct 4141 atctgatttt gtgcaaaagc ttcaaattaa aacagctgca ttagaaaaag aggcgcttct 4201 cccctcccct acacctaaag gtgtatttaa actatcttgt gtgattaact tatttagaga 4261 tgctgtaact taaaataggg gatatttaag gtagcttcag ctagctttta ggaaaatcac 4321 tttgtctaac tcagaattat ttttaaaaag aaatctggtc ttgttagaaa acaaaatttt 4381 attttgtgct catttaagtt tcaaacttac tattttgaca gttattttga taacaatgac 4441 actagaaaac ttgactccat ttcatcattg tttctgcatg aatatcatac aaatcagtta 4501 gtttttaggt caagggctta ctatttctgg gtcttttgct actaagttca cattagaatt 4561 agtgccagaa ttttaggaac ttcagagatc gtgtattgag atttcttaaa taatgcttca 4621 gatattattg ctttattgct tttttgtatt ggttaaaact gtacatttaa aattgctatg 4681 ttactatttt ctacaattaa tagtttgtct attttaaaat aaattagttg ttaagagtct 4741 taatggtctg atgttgtgtt ctttgtatta agtacactaa tgttctcttt tctgtctagg 4801 agaagataga tagaagataa ctctcctagt atctcatcc //