LOCUS HUMMSH2M6A 2917 bp mRNA linear HUM 30-SEP-1995
DEFINITION Homo sapiens DNA mismatch repair protein (MSH2) mRNA, with a
deletion mutation causing a premature stop.
ACCESSION L47575
VERSION L47575.1
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 2917)
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..2917
/db_xref="H-InvDB:HIT000193921"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/map="7p21"
gene 1..2917
/gene="MSH2"
primer_bind complement(1..19)
CDS 41..1066
/gene="MSH2"
/note="premature stop codon due to mutation"
/codon_start=1
/protein_id="AAB59567.1"
/translation="MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYT
AHGEDALLAAREVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVKDLLLVRQYRVEV
YKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQ
VGVGYVDSIQRKLGLCEFPDNDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIIQ
RGGILITERKKADFSTKDIYQDLNRLLKGKKGEQMNSAVLPEMENQVAVSSLSAVIKF
LELLSDDSNFGQFELTTFDFSQYMKLDIAAVRALNLFQGSVEDTTGSQSLAALLNKCK
TPQGQTC"
variation 1055..1057
/gene="MSH2"
/note="The mutation is associated with: colon cancer,
prostate involvement, urinary tract problems,endometrial
cancer, ethmoid cancer, duodenal cancer, jejunum cancer,
and ovarian cancer.; caaag in wt/cag in mutant"
/replace="caaag"
BASE COUNT 923 a 523 c 673 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 aggacagact tgttaaccag tggattaagc
1081 agcctctcat ggataagaac agaatagagg agagattgaa tttagtggaa gcttttgtag
1141 aagatgcaga attgaggcag actttacaag aagatttact tcgtcgattc ccagatctta
1201 accgacttgc caagaagttt caaagacaag cagcaaactt acaagattgt taccgactct
1261 atcagggtat aaatcaacta cctaatgtta tacaggctct ggaaaaacat gaaggaaaac
1321 accagaaatt attgttggca gtttttgtga ctcctcttac tgatcttcgt tctgacttct
1381 ccaagtttca ggaaatgata gaaacaactt tagatatgga tcaggtggaa aaccatgaat
1441 tccttgtaaa accttcattt gatcctaatc tcagtgaatt aagagaaata atgaatgact
1501 tggaaaagaa gatgcagtca acattaataa gtgcagccag agatcttggc ttggaccctg
1561 gcaaacagat taaactggat tccagtgcac agtttggata ttactttcgt gtaacctgta
1621 aggaagaaaa agtccttcgt aacaataaaa actttagtac tgtagatatc cagaagaatg
1681 gtgttaaatt taccaacagc aaattgactt ctttaaatga agagtatacc aaaaataaaa
1741 cagaatatga agaagcccag gatgccattg ttaaagaaat tgtcaatatt tcttcaggct
1801 atgtagaacc aatgcagaca ctcaatgatg tgttagctca gctagatgct gttgtcagct
1861 ttgctcacgt gtcaaatgga gcacctgttc catatgtacg accagccatt ttggagaaag
1921 gacaaggaag aattatatta aaagcatcca ggcatgcttg tgttgaagtt caagatgaaa
1981 ttgcatttat tcctaatgac gtatactttg aaaaagataa acagatgttc cacatcatta
2041 ctggccccaa tatgggaggt aaatcaacat atattcgaca aactggggtg atagtactca
2101 tggcccaaat tgggtgtttt gtgccatgtg agtcagcaga agtgtccatt gtggactgca
2161 tcttagcccg agtaggggct ggtgacagtc aattgaaagg agtctccacg ttcatggctg
2221 aaatgttgga aactgcttct atcctcaggt ctgcaaccaa agattcatta ataatcatag
2281 atgaattggg aagaggaact tctacctacg atggatttgg gttagcatgg gctatatcag
2341 aatacattgc aacaaagatt ggtgcttttt gcatgtttgc aacccatttt catgaactta
2401 ctgccttggc caatcagata ccaactgtta ataatctaca tgtcacagca ctcaccactg
2461 aagagacctt aactatgctt tatcaggtga agaaaggtgt ctgtgatcaa agttttggga
2521 ttcatgttgc agagcttgct aatttcccta agcatgtaat agagtgtgct aaacagaaag
2581 ccctggaact tgaggagttt cagtatattg gagaatcgca aggatatgat atcatggaac
2641 cagcagcaaa gaagtgctat ctggaaagag agcaaggtga aaaaattatt caggagttcc
2701 tgtccaaggt gaaacaaatg ccctttactg aaatgtcaga agaaaacatc acaataaagt
2761 taaaacagct aaaagctgaa gtaatagcaa agaataatag ctttgtaaat gaaatcattt
2821 cacgaataaa agttactacg tgaaaaatcc cagtaatgga atgaaggtaa tattgataag
2881 ctattgtctg taatagtttt atattgtttt atattaa
//