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
//