Amino acids sequence

        10         20         30         40         50         60
MSFVAGVIRR LDETVVNRIA AGEVIQRPAN AIKEMIENCL DAKSTSIQVI VKEGGLKLIQ
        70         80         90        100        110        120
IQDNGTGIRK EDLDIVCERF TTSKLQSFED LASISTYGFR GEALASISHV AHVTITTKTA
       130        140        150        160        170        180
DGKCAYRASY SDGKLKAPPK PCAGNQGTQI TVEDLFYNIA TRRKALKNPS EEYGKILEVV
       190        200        210        220        230        240
GRYSVHNAGI SFSVKKQGET VADVRTLPNA STVDNIRSIF GNAVSRELIE IGCEDKTLAF
       250        260        270        280        290        300
KMNGYISNAN YSVKKCIFLL FINHRLVEST SLRKAIETVY AAYLPKNTHP FLYLSLEISP
       310        320        330        340        350        360
QNVDVNVHPT KHEVHFLHEE SILERVQQHI ESKLLGSNSS RMYFTQTLLP GLAGPSGEMV
       370        380        390        400        410        420
KSTTSLTSSS TSGSSDKVYA HQMVRTDSRE QKLDAFLQPL SKPLSSQPQA IVTEDKTDIS
       430        440        450        460        470        480
SGRARQQDEE MLELPAPAEV AAKNQSLEGD TTKGTSEMSE KRGPTSSNPR KRHREDSDVE
       490        500        510        520        530        540
MVEDDSRKEM TAACTPRRRI INLTSVLSLQ EEINEQGHEV LREMLHNHSF VGCVNPQWAL
       550        560        570        580        590        600
AQHQTKLYLL NTTKLSEELF YQILIYDFAN FGVLRLSEPA PLFDLAMLAL DSPESGWTEE
       610        620        630        640        650        660
DGPKEGLAEY IVEFLKKKAE MLADYFSLEI DEEGNLIGLP LLIDNYVPPL EGLPIFILRL
       670        680        690        700        710        720
ATEVNWDEEK ECFESLSKEC AMFYSIRKQY ISEESTLSGQ QSEVPGSIPN SWKWTVEHIV
       730        740        750
YKALRSHILP PKHFTEDGNI LQLANLPDLY KVFERC  

Encoded by MLH1 gene

FULL NAME: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)


OTHER NAME(S):
COCA2
FCC2
HNPCC
HNPCC2
MGC5172
hMLH1


DESCRIPTION:
This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009]


Nucleic acid sequence

        10         20         30         40         50         60
atgtcgttcg tggcaggggt tattcggcgg ctggacgaga cagtggtgaa ccgcatcgcg
        70         80         90        100        110        120
gcgggggaag ttatccagcg gccagctaat gctatcaaag agatgattga gaactgttta
       130        140        150        160        170        180
gatgcaaaat ccacaagtat tcaagtgatt gttaaagagg gaggcctgaa gttgattcag
       190        200        210        220        230        240
atccaagaca atggcaccgg gatcaggaaa gaagatctgg atattgtatg tgaaaggttc
       250        260        270        280        290        300
actactagta aactgcagtc ctttgaggat ttagccagta tttctaccta tggctttcga
       310        320        330        340        350        360
ggtgaggctt tggccagcat aagccatgtg gctcatgtta ctattacaac gaaaacagct
       370        380        390        400        410        420
gatggaaagt gtgcatacag agcaagttac tcagatggaa aactgaaagc ccctcctaaa
       430        440        450        460        470        480
ccatgtgctg gcaatcaagg gacccagatc acggtggagg acctttttta caacatagcc
       490        500        510        520        530        540
acgaggagaa aagctttaaa aaatccaagt gaagaatatg ggaaaatttt ggaagttgtt
       550        560        570        580        590        600
ggcaggtatt cagtacacaa tgcaggcatt agtttctcag ttaaaaaaca aggagagaca
       610        620        630        640        650        660
gtagctgatg ttaggacact acccaatgcc tcaaccgtgg acaatattcg ctccatcttt
       670        680        690        700        710        720
ggaaatgctg ttagtcgaga actgatagaa attggatgtg aggataaaac cctagccttc
       730        740        750        760        770        780
aaaatgaatg gttacatatc caatgcaaac tactcagtga agaagtgcat cttcttactc
       790        800        810        820        830        840
ttcatcaacc atcgtctggt agaatcaact tccttgagaa aagccataga aacagtgtat
       850        860        870        880        890        900
gcagcctatt tgcccaaaaa cacacaccca ttcctgtacc tcagtttaga aatcagtccc
       910        920        930        940        950        960
cagaatgtgg atgttaatgt gcaccccaca aagcatgaag ttcacttcct gcacgaggag
       970        980        990       1000       1010       1020
agcatcctgg agcgggtgca gcagcacatc gagagcaagc tcctgggctc caattcctcc
      1030       1040       1050       1060       1070       1080
aggatgtact tcacccagac tttgctacca ggacttgctg gcccctctgg ggagatggtt
      1090       1100       1110       1120       1130       1140
aaatccacaa caagtctgac ctcgtcttct acttctggaa gtagtgataa ggtctatgcc
      1150       1160       1170       1180       1190       1200
caccagatgg ttcgtacaga ttcccgggaa cagaagcttg atgcatttct gcagcctctg
      1210       1220       1230       1240       1250       1260
agcaaacccc tgtccagtca gccccaggcc attgtcacag aggataagac agatatttct
      1270       1280       1290       1300       1310       1320
agtggcaggg ctaggcagca agatgaggag atgcttgaac tcccagcccc tgctgaagtg
      1330       1340       1350       1360       1370       1380
gctgccaaaa atcagagctt ggagggggat acaacaaagg ggacttcaga aatgtcagag
      1390       1400       1410       1420       1430       1440
aagagaggac ctacttccag caaccccaga aagagacatc gggaagattc tgatgtggaa
      1450       1460       1470       1480       1490       1500
atggtggaag atgattcccg aaaggaaatg actgcagctt gtaccccccg gagaaggatc
      1510       1520       1530       1540       1550       1560
attaacctca ctagtgtttt gagtctccag gaagaaatta atgagcaggg acatgaggtt
      1570       1580       1590       1600       1610       1620
ctccgggaga tgttgcataa ccactccttc gtgggctgtg tgaatcctca gtgggccttg
      1630       1640       1650       1660       1670       1680
gcacagcatc aaaccaagtt ataccttctc aacaccacca agcttagtga agaactgttc
      1690       1700       1710       1720       1730       1740
taccagatac tcatttatga ttttgccaat tttggtgttc tcaggttatc ggagccagca
      1750       1760       1770       1780       1790       1800
ccgctctttg accttgccat gcttgcctta gatagtccag agagtggctg gacagaggaa
      1810       1820       1830       1840       1850       1860
gatggtccca aagaaggact tgctgaatac attgttgagt ttctgaagaa gaaggctgag
      1870       1880       1890       1900       1910       1920
atgcttgcag actatttctc tttggaaatt gatgaggaag ggaacctgat tggattaccc
      1930       1940       1950       1960       1970       1980
cttctgattg acaactatgt gccccctttg gagggactgc ctatcttcat tcttcgacta
      1990       2000       2010       2020       2030       2040
gccactgagg tgaattggga cgaagaaaag gaatgttttg aaagcctcag taaagaatgc
      2050       2060       2070       2080       2090       2100
gctatgttct attccatccg gaagcagtac atatctgagg agtcgaccct ctcaggccag
      2110       2120       2130       2140       2150       2160
cagagtgaag tgcctggctc cattccaaac tcctggaagt ggactgtgga acacattgtc
      2170       2180       2190       2200       2210       2220
tataaagcct tgcgctcaca cattctgcct cctaaacatt tcacagaaga tggaaatatc
      2230       2240       2250       2260       2270
ctgcagcttg ctaacctgcc tgatctatac aaagtctttg agaggtgtta a

Last modification date: Oct. 2, 2011