LOCUS       HUMMSH2M5A              2919 bp    mRNA    linear   HUM 30-SEP-1995
DEFINITION  Homo sapiens mismatch repair protein (MSH2) mRNA, with a Q288stop
            mutation.
ACCESSION   L47574
VERSION     L47574.1
KEYWORDS    mismatch repair protein; mutation.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2919)
  AUTHORS   Wijnen,J., Vasen,H., Khan,P.M., Menko,F.H., van der Klift,H., van
            Leeuwen,C., van den Broek,M., van Leeuwen-Cornelisse,I.,
            Nagengast,F., Meijers-Heijboer,A., Lindhout,D., Griffioen,G.,
            Cats,A., Kleibeuker,J., Varesco,L., Bertario,L., Bisgaard,M.L.,
            Mohr,J. and Fodde,R.
  TITLE     Seven new mutations in hMSH2, an HNPCC gene, identified by
            denaturing gradient-gel electrophoresis
  JOURNAL   Am. J. Hum. Genet. 56 (5), 1060-1066 (1995)
   PUBMED   7726159
COMMENT     Original source text: Homo sapiens cDNA to mRNA.
FEATURES             Location/Qualifiers
     source          1..2919
                     /db_xref="H-InvDB:HIT000193920"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     primer_bind     complement(1..19)
     CDS             41..904
                     /note="mutation causes premature stop"
                     /codon_start=1
                     /protein_id="AAB59566.1"
                     /translation="MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYT
                     AHGEDALLAAREVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVKDLLLVRQYRVEV
                     YKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQ
                     VGVGYVDSIQRKLGLCEFPDNDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIIQ
                     RGGILITERKKADFSTKDIYQDLNRLLKGKKGEQMNSAVLPEMENQVAVSSLSAVIKF
                     LELLSDDSNFG"
     variation       930
                     /note="The mutation is associated with colon cancer,
                     urinary tract involvement, colonic polyps, stomach cancer,
                     carcinoma in situ, colonic polyps and kidney tumors.; c
                     (Gln) in wt/t (stop) in mutant"
                     /replace="c"
BASE COUNT          925 a          522 c          673 g          799 t
ORIGIN      
        1 tcgcgcattt tcttcaacca ggaggtgagg aggtttcgac atggcggtgc agccgaagga
       61 gacgctgcag ttggagagcg cggccgaggt cggcttcgtg cgcttctttc agggcatgcc
      121 ggagaagccg accaccacag tgcgcctttt cgaccggggc gacttctata cggcgcacgg
      181 cgaggacgcg ctgctggccg cccgggaggt gttcaagacc cagggggtga tcaagtacat
      241 ggggccggca ggagcaaaga atctgcagag tgttgtgctt agtaaaatga attttgaatc
      301 ttttgtaaaa gatcttcttc tggttcgtca gtatagagtt gaagtttata agaatagagc
      361 tggaaataag gcatccaagg agaatgattg gtatttggca tataaggctt ctcctggcaa
      421 tctctctcag tttgaagaca ttctctttgg taacaatgat atgtcagctt ccattggtgt
      481 tgtgggtgtt aaaatgtccg cagttgatgg ccagagacag gttggagttg ggtatgtgga
      541 ttccatacag aggaaactag gactgtgtga attccctgat aatgatcagt tctccaatct
      601 tgaggctctc ctcatccaga ttggaccaaa ggaatgtgtt ttacccggag gagagactgc
      661 tggagacatg gggaaactga gacagataat tcaaagagga ggaattctga tcacagaaag
      721 aaaaaaagct gacttttcca caaaagacat ttatcaggac ctcaaccggt tgttgaaagg
      781 caaaaaggga gagcagatga atagtgctgt attgccagaa atggagaatc aggttgcagt
      841 ttcatcactg tctgcggtaa tcaagttttt agaactctta tcagatgatt ccaactttgg
      901 atagtttgaa ctgactactt ttgacttcag ccagtatatg aaattggata ttgcagcagt
      961 cagagccctt aacctttttc agggttctgt tgaagatacc actggctctc agtctctggc
     1021 tgccttgctg aataagtgta aaacccctca aggacaaaga cttgttaacc agtggattaa
     1081 gcagcctctc atggataaga acagaataga ggagagattg aatttagtgg aagcttttgt
     1141 agaagatgca gaattgaggc agactttaca agaagattta cttcgtcgat tcccagatct
     1201 taaccgactt gccaagaagt ttcaaagaca agcagcaaac ttacaagatt gttaccgact
     1261 ctatcagggt ataaatcaac tacctaatgt tatacaggct ctggaaaaac atgaaggaaa
     1321 acaccagaaa ttattgttgg cagtttttgt gactcctctt actgatcttc gttctgactt
     1381 ctccaagttt caggaaatga tagaaacaac tttagatatg gatcaggtgg aaaaccatga
     1441 attccttgta aaaccttcat ttgatcctaa tctcagtgaa ttaagagaaa taatgaatga
     1501 cttggaaaag aagatgcagt caacattaat aagtgcagcc agagatcttg gcttggaccc
     1561 tggcaaacag attaaactgg attccagtgc acagtttgga tattactttc gtgtaacctg
     1621 taaggaagaa aaagtccttc gtaacaataa aaactttagt actgtagata tccagaagaa
     1681 tggtgttaaa tttaccaaca gcaaattgac ttctttaaat gaagagtata ccaaaaataa
     1741 aacagaatat gaagaagccc aggatgccat tgttaaagaa attgtcaata tttcttcagg
     1801 ctatgtagaa ccaatgcaga cactcaatga tgtgttagct cagctagatg ctgttgtcag
     1861 ctttgctcac gtgtcaaatg gagcacctgt tccatatgta cgaccagcca ttttggagaa
     1921 aggacaagga agaattatat taaaagcatc caggcatgct tgtgttgaag ttcaagatga
     1981 aattgcattt attcctaatg acgtatactt tgaaaaagat aaacagatgt tccacatcat
     2041 tactggcccc aatatgggag gtaaatcaac atatattcga caaactgggg tgatagtact
     2101 catggcccaa attgggtgtt ttgtgccatg tgagtcagca gaagtgtcca ttgtggactg
     2161 catcttagcc cgagtagggg ctggtgacag tcaattgaaa ggagtctcca cgttcatggc
     2221 tgaaatgttg gaaactgctt ctatcctcag gtctgcaacc aaagattcat taataatcat
     2281 agatgaattg ggaagaggaa cttctaccta cgatggattt gggttagcat gggctatatc
     2341 agaatacatt gcaacaaaga ttggtgcttt ttgcatgttt gcaacccatt ttcatgaact
     2401 tactgccttg gccaatcaga taccaactgt taataatcta catgtcacag cactcaccac
     2461 tgaagagacc ttaactatgc tttatcaggt gaagaaaggt gtctgtgatc aaagttttgg
     2521 gattcatgtt gcagagcttg ctaatttccc taagcatgta atagagtgtg ctaaacagaa
     2581 agccctggaa cttgaggagt ttcagtatat tggagaatcg caaggatatg atatcatgga
     2641 accagcagca aagaagtgct atctggaaag agagcaaggt gaaaaaatta ttcaggagtt
     2701 cctgtccaag gtgaaacaaa tgccctttac tgaaatgtca gaagaaaaca tcacaataaa
     2761 gttaaaacag ctaaaagctg aagtaatagc aaagaataat agctttgtaa atgaaatcat
     2821 ttcacgaata aaagttacta cgtgaaaaat cccagtaatg gaatgaaggt aatattgata
     2881 agctattgtc tgtaatagtt ttatattgtt ttatattaa
//