LOCUS HUMMSH2M7A 2918 bp mRNA linear HUM 30-SEP-1995
DEFINITION Homo sapiens DNA mismatch repair protein (MSH2) mRNA, with a 1 base
pair deletion, causing hereditary nonpolyposis colorectal cancer.
ACCESSION L47576
VERSION L47576.1
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 2918)
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..2918
/db_xref="H-InvDB:HIT000193922"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/map="7p21"
gene 1..2918
/gene="MSH2"
primer_bind complement(1..19)
CDS 41..1273
/gene="MSH2"
/note="Frameshift mutation results in premature stop"
/codon_start=1
/protein_id="AAB59568.1"
/translation="MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYT
AHGEDALLAAREVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVKDLLLVRQYRVEV
YKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQ
VGVGYVDSIQRKLGLCEFPDNDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIIQ
RGGILITERKKADFSTKDIYQDLNRLLKGKKGEQMNSAVLPEMENQVAVSSLSAVIKF
LELLSDDSNFGQFELTTFDFSQYMKLDIAAVRALNLFQGSVEDTTGSQSLAALLNKCK
TPQGQRLVNQWIKQPLMDKNRIEERLNLVEAFVEDAELRQTLQEDYFVDSQILTDLPR
SFKDKQQTYKIVTDSIRV"
variation 1177..1178
/gene="MSH2"
/note="This mutation is associated with: colon and
endometrial, and esophageal, and stomach cancers, and
malignant colonic polyps, and signet ring cell carcinoma
in the colon.; ttt in wt/tt in frameshift mutation"
/replace="ttt"
BASE COUNT 925 a 523 c 673 g 797 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 agaagattac ttcgtcgatt cccagatctt
1201 aaccgacttg ccaagaagtt tcaaagacaa gcagcaaact tacaagattg ttaccgactc
1261 tatcagggta taaatcaact acctaatgtt atacaggctc tggaaaaaca tgaaggaaaa
1321 caccagaaat tattgttggc agtttttgtg actcctctta ctgatcttcg ttctgacttc
1381 tccaagtttc aggaaatgat agaaacaact ttagatatgg atcaggtgga aaaccatgaa
1441 ttccttgtaa aaccttcatt tgatcctaat ctcagtgaat taagagaaat aatgaatgac
1501 ttggaaaaga agatgcagtc aacattaata agtgcagcca gagatcttgg cttggaccct
1561 ggcaaacaga ttaaactgga ttccagtgca cagtttggat attactttcg tgtaacctgt
1621 aaggaagaaa aagtccttcg taacaataaa aactttagta ctgtagatat ccagaagaat
1681 ggtgttaaat ttaccaacag caaattgact tctttaaatg aagagtatac caaaaataaa
1741 acagaatatg aagaagccca ggatgccatt gttaaagaaa ttgtcaatat ttcttcaggc
1801 tatgtagaac caatgcagac actcaatgat gtgttagctc agctagatgc tgttgtcagc
1861 tttgctcacg tgtcaaatgg agcacctgtt ccatatgtac gaccagccat tttggagaaa
1921 ggacaaggaa gaattatatt aaaagcatcc aggcatgctt gtgttgaagt tcaagatgaa
1981 attgcattta ttcctaatga cgtatacttt gaaaaagata aacagatgtt ccacatcatt
2041 actggcccca atatgggagg taaatcaaca tatattcgac aaactggggt gatagtactc
2101 atggcccaaa ttgggtgttt tgtgccatgt gagtcagcag aagtgtccat tgtggactgc
2161 atcttagccc gagtaggggc tggtgacagt caattgaaag gagtctccac gttcatggct
2221 gaaatgttgg aaactgcttc tatcctcagg tctgcaacca aagattcatt aataatcata
2281 gatgaattgg gaagaggaac ttctacctac gatggatttg ggttagcatg ggctatatca
2341 gaatacattg caacaaagat tggtgctttt tgcatgtttg caacccattt tcatgaactt
2401 actgccttgg ccaatcagat accaactgtt aataatctac atgtcacagc actcaccact
2461 gaagagacct taactatgct ttatcaggtg aagaaaggtg tctgtgatca aagttttggg
2521 attcatgttg cagagcttgc taatttccct aagcatgtaa tagagtgtgc taaacagaaa
2581 gccctggaac ttgaggagtt tcagtatatt ggagaatcgc aaggatatga tatcatggaa
2641 ccagcagcaa agaagtgcta tctggaaaga gagcaaggtg aaaaaattat tcaggagttc
2701 ctgtccaagg tgaaacaaat gccctttact gaaatgtcag aagaaaacat cacaataaag
2761 ttaaaacagc taaaagctga agtaatagca aagaataata gctttgtaaa tgaaatcatt
2821 tcacgaataa aagttactac gtgaaaaatc ccagtaatgg aatgaaggta atattgataa
2881 gctattgtct gtaatagttt tatattgttt tatattaa
//