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 //