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LOCUS XM_044891 2484 bp mRNA PRI 16-OCT-2001
DEFINITION Homo sapiens mutL (E. coli) homolog 1 (colon cancer, nonpolyposis
type 2) (MLH1), mRNA.
ACCESSION XM_044891
VERSION XM_044891.1 GI:14725770
KEYWORDS .
SOURCE human.
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 2484)
AUTHORS NCBI Annotation Project.
TITLE Direct Submission
JOURNAL Submitted (11-OCT-2001) National Center for Biotechnology
Information, NIH, Bethesda, MD 20894, USA
FEATURES Location/Qualifiers
source 1..2484
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="3"
gene 1..2484
/gene="MLH1"
/note="COCA2; HNPCC; hMLH1; HNPCC2; Located on Accession
NT_005580"
/db_xref="LocusID:4292"
/db_xref="MIM:120436"
CDS 22..2292
/gene="MLH1"
/note="Located on Accession NT_005580"
/codon_start=1
/product="mutL homolog 1"
/protein_id="XP_044891.1"
/db_xref="GI:14725771"
/translation="MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKS
TSIQVIVKEGGLKLIQIQDNGTGIRKEDLDIVCERFTTSKLQSFEDLASISTYGFRGE
ALASISHVAHVTITTKTADGKCAYRASYSDGKLKAPPKPCAGNQGTQITVEDLFYNIA
TRRKALKNPSEEYGKILEVVGRYSVHNAGISFSVKKQGETVADVRTLPNASTVDNIRS
IFGNAVSRELIEIGCEDKTLAFKMNGYISNANYSVKKCIFLLFINHRLVESTSLRKAI
ETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEESILERVQQHIESKL
LGSNSSRMYFTQTLLPGLAGPSGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQK
LDAFLQPLSKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGD
TTKGTSEMSEKRGPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRIINLTSVLS
LQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFYQILIY
DFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLAD
YFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAM
FYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPKHFTEDGNI
LQLANLPDLYKVFERC"
variation 60
/allele="G"
/allele="A"
/db_xref="dbSNP:1800143"
misc_feature 112..273
/note="HATPase_c; Region: Histidine kinase-"
misc_feature 112..282
/note="HATPase_c; Region: Histidine kinase-like ATPases"
variation 115
/allele="A"
/allele="G"
/db_xref="dbSNP:2266714"
variation 396
/allele="A"
/allele="G"
/db_xref="dbSNP:1800144"
misc_feature 460..1002
/note="DNA_mis_repair; Region: DNA mismatch repair
protein. Also known as the mutL/hexB/PMS1 family"
variation 658
/allele="A"
/allele="G"
/db_xref="dbSNP:2308317"
variation 676
/allele="G"
/allele="A"
/db_xref="dbSNP:1799977"
variation 676
/allele="G"
/allele="A"
/db_xref="dbSNP:2229023"
variation 1929
/allele="G"
/allele="A"
/db_xref="dbSNP:1800145"
variation 1980
/allele="G"
/allele="T"
/db_xref="dbSNP:1800146"
variation 2139
/allele="C"
/allele="T"
/db_xref="dbSNP:1800147"
variation 2173
/allele="C"
/allele="T"
/db_xref="dbSNP:2266715"
variation 2175
/allele="C"
/allele="T"
/db_xref="dbSNP:1800148"
variation 2206
/allele="C"
/allele="G"
/db_xref="dbSNP:1800149"
variation 2393
/allele="G"
/allele="T"
/db_xref="dbSNP:1803985"
variation 2454..2457
/allele="GATT"
/allele="-"
/db_xref="dbSNP:2266713"
BASE COUNT 720 a 535 c 594 g 635 t
ORIGIN
1 cttggctctt ctggcgccaa aatgtcgttc gtggcagggg ttattcggcg gctggacgag
61 acagtggtga accgcatcgc ggcgggggaa gttatccagc ggccagctaa tgctatcaaa
121 gagatgattg agaactgttt agatgcaaaa tccacaagta ttcaagtgat tgttaaagag
181 ggaggcctga agttgattca gatccaagac aatggcaccg ggatcaggaa agaagatctg
241 gatattgtat gtgaaaggtt cactactagt aaactgcagt cctttgagga tttagccagt
301 atttctacct atggctttcg aggtgaggct ttggccagca taagccatgt ggctcatgtt
361 actattacaa cgaaaacagc tgatggaaag tgtgcataca gagcaagtta ctcagatgga
421 aaactgaaag cccctcctaa accatgtgct ggcaatcaag ggacccagat cacggtggag
481 gacctttttt acaacatagc cacgaggaga aaagctttaa aaaatccaag tgaagaatat
541 gggaaaattt tggaagttgt tggcaggtat tcagtacaca atgcaggcat tagtttctca
601 gttaaaaaac aaggagagac agtagctgat gttaggacac tacccaatgc ctcaaccgtg
661 gacaatattc gctccatctt tggaaatgct gttagtcgag aactgataga aattggatgt
721 gaggataaaa ccctagcctt caaaatgaat ggttacatat ccaatgcaaa ctactcagtg
781 aagaagtgca tcttcttact cttcatcaac catcgtctgg tagaatcaac ttccttgaga
841 aaagccatag aaacagtgta tgcagcctat ttgcccaaaa acacacaccc attcctgtac
901 ctcagtttag aaatcagtcc ccagaatgtg gatgttaatg tgcaccccac aaagcatgaa
961 gttcacttcc tgcacgagga gagcatcctg gagcgggtgc agcagcacat cgagagcaag
1021 ctcctgggct ccaattcctc caggatgtac ttcacccaga ctttgctacc aggacttgct
1081 ggcccctctg gggagatggt taaatccaca acaagtctga cctcgtcttc tacttctgga
1141 agtagtgata aggtctatgc ccaccagatg gttcgtacag attcccggga acagaagctt
1201 gatgcatttc tgcagcctct gagcaaaccc ctgtccagtc agccccaggc cattgtcaca
1261 gaggataaga cagatatttc tagtggcagg gctaggcagc aagatgagga gatgcttgaa
1321 ctcccagccc ctgctgaagt ggctgccaaa aatcagagct tggaggggga tacaacaaag
1381 gggacttcag aaatgtcaga gaagagagga cctacttcca gcaaccccag aaagagacat
1441 cgggaagatt ctgatgtgga aatggtggaa gatgattccc gaaaggaaat gactgcagct
1501 tgtacccccc ggagaaggat cattaacctc actagtgttt tgagtctcca ggaagaaatt
1561 aatgagcagg gacatgaggt tctccgggag atgttgcata accactcctt cgtgggctgt
1621 gtgaatcctc agtgggcctt ggcacagcat caaaccaagt tataccttct caacaccacc
1681 aagcttagtg aagaactgtt ctaccagata ctcatttatg attttgccaa ttttggtgtt
1741 ctcaggttat cggagccagc accgctcttt gaccttgcca tgcttgcctt agatagtcca
1801 gagagtggct ggacagagga agatggtccc aaagaaggac ttgctgaata cattgttgag
1861 tttctgaaga agaaggctga gatgcttgca gactatttct ctttggaaat tgatgaggaa
1921 gggaacctga ttggattacc ccttctgatt gacaactatg tgcccccttt ggagggactg
1981 cctatcttca ttcttcgact agccactgag gtgaattggg acgaagaaaa ggaatgtttt
2041 gaaagcctca gtaaagaatg cgctatgttc tattccatcc ggaagcagta catatctgag
2101 gagtcgaccc tctcaggcca gcagagtgaa gtgcctggct ccattccaaa ctcctggaag
2161 tggactgtgg aacacattgt ctataaagcc ttgcgctcac acattctgcc tcctaaacat
2221 ttcacagaag atggaaatat cctgcagctt gctaacctgc ctgatctata caaagtcttt
2281 gagaggtgtt aaatatggtt atttatgcac tgtgggatgt gttcttcttt ctctgtattc
2341 cgatacaaag tgttgtatca aagtgtgata tacaaagtgt accaacataa gtgttggtag
2401 cacttaagac ttatacttgc cttctgatag tattccttta tacacagtgg attgattata
2461 aataaataga tgtgtcttaa cata
//
