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 //