LOCUS       HUMMSHM10A              2920 bp    mRNA    linear   HUM 30-SEP-1995
DEFINITION  Homo sapiens DNA mismatch repair protein (MSH2) mRNA, with a 1 base
            pair insertion at base 1662, causing hereditary nonpolyposis
            colorectal cancer.
ACCESSION   L47579
VERSION     L47579.1
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 2920)
  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..2920
                     /db_xref="H-InvDB:HIT000193925"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /map="7p21"
     gene            1..2920
                     /gene="MSH2"
     primer_bind     complement(1..19)
     CDS             41..1645
                     /gene="MSH2"
                     /note="Insertion mutation results in premature stop"
                     /codon_start=1
                     /protein_id="AAB59571.1"
                     /translation="MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYT
                     AHGEDALLAAREVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVKDLLLVRQYRVEV
                     YKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQ
                     VGVGYVDSIQRKLGLCEFPDNDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIIQ
                     RGGILITERKKADFSTKDIYQDLNRLLKGKKGEQMNSAVLPEMENQVAVSSLSAVIKF
                     LELLSDDSNFGQFELTTFDFSQYMKLDIAAVRALNLFQGSVEDTTGSQSLAALLNKCK
                     TPQGQRLVNQWIKQPLMDKNRIEERLNLVEAFVEDAELRQTLQEDLLRRFPDLNRLAK
                     KFQRQAANLQDCYRLYQGINQLPNVIQALEKHEGKHQKLLLAVFVTPLTDLRSDFSKF
                     QEMIETTLDMDQVENHEFLVKPSFDPNLSELREIMNDLEKKMQSTLISAARDLGLDPG
                     KQIKLDSSAQFGYYFRVTCKEEKGPS"
     variation       1662..1663
                     /gene="MSH2"
                     /note="g in wt/gg in mutant; This mutation is associated
                     with: colon, and skin, and ovarian, and cervical cancers."
                     /replace="g"
BASE COUNT          925 a          523 c          674 g          798 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 acagtttgaa 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 aaaggtcctt cgtaacaata aaaactttag tactgtagat atccagaaga
     1681 atggtgttaa atttaccaac agcaaattga cttctttaaa tgaagagtat accaaaaata
     1741 aaacagaata tgaagaagcc caggatgcca ttgttaaaga aattgtcaat atttcttcag
     1801 gctatgtaga accaatgcag acactcaatg atgtgttagc tcagctagat gctgttgtca
     1861 gctttgctca cgtgtcaaat ggagcacctg ttccatatgt acgaccagcc attttggaga
     1921 aaggacaagg aagaattata ttaaaagcat ccaggcatgc ttgtgttgaa gttcaagatg
     1981 aaattgcatt tattcctaat gacgtatact ttgaaaaaga taaacagatg ttccacatca
     2041 ttactggccc caatatggga ggtaaatcaa catatattcg acaaactggg gtgatagtac
     2101 tcatggccca aattgggtgt tttgtgccat gtgagtcagc agaagtgtcc attgtggact
     2161 gcatcttagc ccgagtaggg gctggtgaca gtcaattgaa aggagtctcc acgttcatgg
     2221 ctgaaatgtt ggaaactgct tctatcctca ggtctgcaac caaagattca ttaataatca
     2281 tagatgaatt gggaagagga acttctacct acgatggatt tgggttagca tgggctatat
     2341 cagaatacat tgcaacaaag attggtgctt tttgcatgtt tgcaacccat tttcatgaac
     2401 ttactgcctt ggccaatcag ataccaactg ttaataatct acatgtcaca gcactcacca
     2461 ctgaagagac cttaactatg ctttatcagg tgaagaaagg tgtctgtgat caaagttttg
     2521 ggattcatgt tgcagagctt gctaatttcc ctaagcatgt aatagagtgt gctaaacaga
     2581 aagccctgga acttgaggag tttcagtata ttggagaatc gcaaggatat gatatcatgg
     2641 aaccagcagc aaagaagtgc tatctggaaa gagagcaagg tgaaaaaatt attcaggagt
     2701 tcctgtccaa ggtgaaacaa atgcccttta ctgaaatgtc agaagaaaac atcacaataa
     2761 agttaaaaca gctaaaagct gaagtaatag caaagaataa tagctttgta aatgaaatca
     2821 tttcacgaat aaaagttact acgtgaaaaa tcccagtaat ggaatgaagg taatattgat
     2881 aagctattgt ctgtaatagt tttatattgt tttatattaa
//