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MLH3_HUMAN
ID   MLH3_HUMAN              Reviewed;        1453 AA.
AC   Q9UHC1; P49751; Q56DK9; Q9P292; Q9UHC0;
DT   27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT   11-JAN-2011, sequence version 3.
DT   03-AUG-2022, entry version 186.
DE   RecName: Full=DNA mismatch repair protein Mlh3;
DE   AltName: Full=MutL protein homolog 3;
GN   Name=MLH3;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], ALTERNATIVE SPLICING, AND
RP   VARIANTS ASP-826 AND LEU-844.
RX   PubMed=10615123; DOI=10.1038/71643;
RA   Lipkin S.M., Wang V., Jacoby R., Banerjee-Basu S., Baxevanis A.D.,
RA   Lynch H.T., Elliott R.M., Collins F.S.;
RT   "MLH3: a DNA mismatch repair gene associated with mammalian microsatellite
RT   instability.";
RL   Nat. Genet. 24:27-35(2000).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA], INTERACTION WITH MLH1, AND VARIANT ASP-826.
RX   PubMed=11292842; DOI=10.1093/nar/29.8.1695;
RA   Kondo E., Horii A., Fukushige S.;
RT   "The interacting domains of three MutL heterodimers in man: hMLH1 interacts
RT   with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2.";
RL   Nucleic Acids Res. 29:1695-1702(2001).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS GLY-93; SER-120; GLN-231;
RP   ILE-420; VAL-492; GLN-600; PRO-606; GLN-624; CYS-647; CYS-720; ILE-723;
RP   PHE-741; HIS-797; ASP-826; LEU-844; GLY-845; ILE-942; PRO-966; ASN-1073;
RP   GLU-1105; ASP-1163 AND ARG-1319.
RG   NIEHS SNPs program;
RL   Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=12508121; DOI=10.1038/nature01348;
RA   Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA   Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA   Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA   Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA   Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA   Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA   Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA   Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA   Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA   Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA   Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA   Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA   Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA   Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA   Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA   Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA   Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA   Waterston R., Hood L., Weissenbach J.;
RT   "The DNA sequence and analysis of human chromosome 14.";
RL   Nature 421:601-607(2003).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 1189-1453.
RC   TISSUE=Brain;
RX   PubMed=7596406; DOI=10.1038/375754a0;
RA   Sherrington R., Rogaev E.I., Liang Y., Rogaeva E.A., Levesque G., Ikeda M.,
RA   Chi H., Lin C., Li G., Holman K., Tsuda T., Mar L., Foncin J.-F.,
RA   Bruni A.C., Montesi M.P., Sorbi S., Rainero I., Pinessi L., Nee L.,
RA   Chumakov I., Pollen D., Brookes A., Sanseau P., Polinsky R.J., Wasco W.,
RA   da Silva H.A.R., Haines J.L., Pericak-Vance M.A., Tanzi R.E., Roses A.D.,
RA   Fraser P.E., Rommens J.M., St George-Hyslop P.H.;
RT   "Cloning of a gene bearing missense mutations in early-onset familial
RT   Alzheimer's disease.";
RL   Nature 375:754-760(1995).
RN   [6]
RP   INVOLVEMENT IN SOMATIC COLORECTAL CANCER.
RX   PubMed=11317354; DOI=10.1002/humu.1114;
RA   Lipkin S.M., Wang V., Stoler D.L., Anderson G.R., Kirsch I., Hadley D.,
RA   Lynch H.T., Collins F.S.;
RT   "Germline and somatic mutation analyses in the DNA mismatch repair gene
RT   MLH3: evidence for somatic mutation in colorectal cancers.";
RL   Hum. Mutat. 17:389-396(2001).
RN   [7]
RP   INTERACTION WITH MTMR15.
RX   PubMed=20603073; DOI=10.1016/j.molcel.2010.06.023;
RA   Smogorzewska A., Desetty R., Saito T.T., Schlabach M., Lach F.P.,
RA   Sowa M.E., Clark A.B., Kunkel T.A., Harper J.W., Colaiacovo M.P.,
RA   Elledge S.J.;
RT   "A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease
RT   necessary for DNA interstrand crosslink repair.";
RL   Mol. Cell 39:36-47(2010).
RN   [8]
RP   VARIANTS HNPCC7 GLU-24; SER-499; GLN-624; CYS-647; GLY-817; SER-981;
RP   SER-1007; THR-1394 AND LYS-1451.
RX   PubMed=11586295; DOI=10.1038/ng1001-137;
RA   Wu Y., Berends M.J.W., Sijmons R.H., Mensink R.G.J., Verlind E., Kooi K.A.,
RA   van der Sluis T., Kempinga C., van der Zee A.G.J., Hollema H.,
RA   Buys C.H.C.M., Kleibeuker J.H., Hofstra R.M.W.;
RT   "A role for MLH3 in hereditary nonpolyposis colorectal cancer.";
RL   Nat. Genet. 29:137-138(2001).
CC   -!- FUNCTION: Probably involved in the repair of mismatches in DNA.
CC   -!- SUBUNIT: Heterodimer of MLH1 and MLH3. Interacts with MTMR15/FAN1.
CC       {ECO:0000269|PubMed:11292842, ECO:0000269|PubMed:20603073}.
CC   -!- INTERACTION:
CC       Q9UHC1; P40692: MLH1; NbExp=4; IntAct=EBI-3893094, EBI-744248;
CC       Q9UHC1-2; G5E9A7: DMWD; NbExp=3; IntAct=EBI-9089845, EBI-10976677;
CC       Q9UHC1-2; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-9089845, EBI-5235340;
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q9UHC1-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9UHC1-2; Sequence=VSP_003290;
CC   -!- TISSUE SPECIFICITY: Ubiquitous.
CC   -!- DISEASE: Hereditary non-polyposis colorectal cancer 7 (HNPCC7)
CC       [MIM:614385]: An autosomal dominant disease associated with marked
CC       increase in cancer susceptibility. It is characterized by a familial
CC       predisposition to early-onset colorectal carcinoma (CRC) and extra-
CC       colonic tumors of the gastrointestinal, urological and female
CC       reproductive tracts. HNPCC is reported to be the most common form of
CC       inherited colorectal cancer in the Western world. Clinically, HNPCC is
CC       often divided into two subgroups. Type I is characterized by hereditary
CC       predisposition to colorectal cancer, a young age of onset, and
CC       carcinoma observed in the proximal colon. Type II is characterized by
CC       increased risk for cancers in certain tissues such as the uterus,
CC       ovary, breast, stomach, small intestine, skin, and larynx in addition
CC       to the colon. Diagnosis of classical HNPCC is based on the Amsterdam
CC       criteria: 3 or more relatives affected by colorectal cancer, one a
CC       first degree relative of the other two; 2 or more generation affected;
CC       1 or more colorectal cancers presenting before 50 years of age;
CC       exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC'
CC       or 'incomplete HNPCC' can be used to describe families who do not or
CC       only partially fulfill the Amsterdam criteria, but in whom a genetic
CC       basis for colon cancer is strongly suspected.
CC       {ECO:0000269|PubMed:11586295}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- DISEASE: Colorectal cancer (CRC) [MIM:114500]: A complex disease
CC       characterized by malignant lesions arising from the inner wall of the
CC       large intestine (the colon) and the rectum. Genetic alterations are
CC       often associated with progression from premalignant lesion (adenoma) to
CC       invasive adenocarcinoma. Risk factors for cancer of the colon and
CC       rectum include colon polyps, long-standing ulcerative colitis, and
CC       genetic family history. {ECO:0000269|PubMed:11317354}. Note=The disease
CC       is caused by variants affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the DNA mismatch repair MutL/HexB family.
CC       {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAC42005.1; Type=Frameshift; Evidence={ECO:0000305};
CC       Sequence=AAC42005.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};
CC   -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC       URL="http://egp.gs.washington.edu/data/mlh3/";
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DR   EMBL; AF195657; AAF23904.1; -; mRNA.
DR   EMBL; AF195658; AAF23905.1; -; Genomic_DNA.
DR   EMBL; AB039667; BAA92353.1; -; mRNA.
DR   EMBL; AY963685; AAX59030.1; -; Genomic_DNA.
DR   EMBL; AL049780; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; L40399; AAC42005.1; ALT_SEQ; mRNA.
DR   CCDS; CCDS32123.1; -. [Q9UHC1-1]
DR   CCDS; CCDS9837.1; -. [Q9UHC1-2]
DR   RefSeq; NP_001035197.1; NM_001040108.1. [Q9UHC1-1]
DR   RefSeq; XP_006720179.1; XM_006720116.3. [Q9UHC1-1]
DR   RefSeq; XP_016876708.1; XM_017021219.1. [Q9UHC1-2]
DR   AlphaFoldDB; Q9UHC1; -.
DR   SMR; Q9UHC1; -.
DR   BioGRID; 117961; 55.
DR   IntAct; Q9UHC1; 47.
DR   MINT; Q9UHC1; -.
DR   STRING; 9606.ENSP00000348020; -.
DR   CarbonylDB; Q9UHC1; -.
DR   iPTMnet; Q9UHC1; -.
DR   PhosphoSitePlus; Q9UHC1; -.
DR   BioMuta; MLH3; -.
DR   DMDM; 317373417; -.
DR   EPD; Q9UHC1; -.
DR   jPOST; Q9UHC1; -.
DR   MassIVE; Q9UHC1; -.
DR   MaxQB; Q9UHC1; -.
DR   PaxDb; Q9UHC1; -.
DR   PeptideAtlas; Q9UHC1; -.
DR   PRIDE; Q9UHC1; -.
DR   ProteomicsDB; 84305; -. [Q9UHC1-1]
DR   ProteomicsDB; 84306; -. [Q9UHC1-2]
DR   Antibodypedia; 25763; 156 antibodies from 27 providers.
DR   DNASU; 27030; -.
DR   Ensembl; ENST00000355774.7; ENSP00000348020.2; ENSG00000119684.16. [Q9UHC1-1]
DR   Ensembl; ENST00000380968.6; ENSP00000370355.3; ENSG00000119684.16. [Q9UHC1-2]
DR   GeneID; 27030; -.
DR   KEGG; hsa:27030; -.
DR   MANE-Select; ENST00000355774.7; ENSP00000348020.2; NM_001040108.2; NP_001035197.1.
DR   UCSC; uc001xrd.1; human. [Q9UHC1-1]
DR   CTD; 27030; -.
DR   DisGeNET; 27030; -.
DR   GeneCards; MLH3; -.
DR   HGNC; HGNC:7128; MLH3.
DR   HPA; ENSG00000119684; Low tissue specificity.
DR   MalaCards; MLH3; -.
DR   MIM; 114500; phenotype.
DR   MIM; 604395; gene.
DR   MIM; 614385; phenotype.
DR   neXtProt; NX_Q9UHC1; -.
DR   OpenTargets; ENSG00000119684; -.
DR   Orphanet; 144; Lynch syndrome.
DR   PharmGKB; PA30845; -.
DR   VEuPathDB; HostDB:ENSG00000119684; -.
DR   eggNOG; KOG1977; Eukaryota.
DR   GeneTree; ENSGT00800000124176; -.
DR   HOGENOM; CLU_002376_0_0_1; -.
DR   InParanoid; Q9UHC1; -.
DR   OMA; MMSHFNE; -.
DR   OrthoDB; 735423at2759; -.
DR   PhylomeDB; Q9UHC1; -.
DR   TreeFam; TF329597; -.
DR   PathwayCommons; Q9UHC1; -.
DR   Reactome; R-HSA-912446; Meiotic recombination.
DR   SignaLink; Q9UHC1; -.
DR   BioGRID-ORCS; 27030; 14 hits in 1082 CRISPR screens.
DR   ChiTaRS; MLH3; human.
DR   GeneWiki; MLH3; -.
DR   GenomeRNAi; 27030; -.
DR   Pharos; Q9UHC1; Tbio.
DR   PRO; PR:Q9UHC1; -.
DR   Proteomes; UP000005640; Chromosome 14.
DR   RNAct; Q9UHC1; protein.
DR   Bgee; ENSG00000119684; Expressed in monocyte and 189 other tissues.
DR   ExpressionAtlas; Q9UHC1; baseline and differential.
DR   Genevisible; Q9UHC1; HS.
DR   GO; GO:0005712; C:chiasma; IEA:Ensembl.
DR   GO; GO:0001673; C:male germ cell nucleus; IEA:Ensembl.
DR   GO; GO:0032300; C:mismatch repair complex; IBA:GO_Central.
DR   GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR   GO; GO:0005634; C:nucleus; TAS:ProtInc.
DR   GO; GO:0000795; C:synaptonemal complex; IEA:Ensembl.
DR   GO; GO:0005524; F:ATP binding; IEA:InterPro.
DR   GO; GO:0016887; F:ATP hydrolysis activity; IBA:GO_Central.
DR   GO; GO:0140664; F:ATP-dependent DNA damage sensor activity; IEA:InterPro.
DR   GO; GO:0019237; F:centromeric DNA binding; IEA:Ensembl.
DR   GO; GO:0003682; F:chromatin binding; IEA:Ensembl.
DR   GO; GO:0030983; F:mismatched DNA binding; IEA:InterPro.
DR   GO; GO:0003696; F:satellite DNA binding; TAS:ProtInc.
DR   GO; GO:0007144; P:female meiosis I; IEA:Ensembl.
DR   GO; GO:0007140; P:male meiotic nuclear division; IEA:Ensembl.
DR   GO; GO:0006298; P:mismatch repair; IBA:GO_Central.
DR   GO; GO:0008104; P:protein localization; IEA:Ensembl.
DR   GO; GO:0007131; P:reciprocal meiotic recombination; NAS:UniProtKB.
DR   GO; GO:0007130; P:synaptonemal complex assembly; IEA:Ensembl.
DR   Gene3D; 3.30.1370.100; -; 1.
DR   Gene3D; 3.30.1540.20; -; 1.
DR   Gene3D; 3.30.230.10; -; 1.
DR   Gene3D; 3.30.565.10; -; 1.
DR   InterPro; IPR014762; DNA_mismatch_repair_CS.
DR   InterPro; IPR013507; DNA_mismatch_S5_2-like.
DR   InterPro; IPR036890; HATPase_C_sf.
DR   InterPro; IPR028830; Mlh3.
DR   InterPro; IPR038973; MutL/Mlh/Pms.
DR   InterPro; IPR014790; MutL_C.
DR   InterPro; IPR042120; MutL_C_dimsub.
DR   InterPro; IPR042121; MutL_C_regsub.
DR   InterPro; IPR037198; MutL_C_sf.
DR   InterPro; IPR020568; Ribosomal_S5_D2-typ_fold.
DR   InterPro; IPR014721; Ribosomal_S5_D2-typ_fold_subgr.
DR   PANTHER; PTHR10073; PTHR10073; 1.
DR   PANTHER; PTHR10073:SF47; PTHR10073:SF47; 1.
DR   Pfam; PF01119; DNA_mis_repair; 1.
DR   Pfam; PF08676; MutL_C; 1.
DR   SMART; SM01340; DNA_mis_repair; 1.
DR   SMART; SM00853; MutL_C; 1.
DR   SUPFAM; SSF118116; SSF118116; 1.
DR   SUPFAM; SSF54211; SSF54211; 1.
DR   SUPFAM; SSF55874; SSF55874; 1.
DR   PROSITE; PS00058; DNA_MISMATCH_REPAIR_1; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Disease variant; DNA damage; DNA repair;
KW   Hereditary nonpolyposis colorectal cancer; Nucleus; Reference proteome.
FT   CHAIN           1..1453
FT                   /note="DNA mismatch repair protein Mlh3"
FT                   /id="PRO_0000178003"
FT   REGION          624..650
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          933..960
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         1215..1238
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_003290"
FT   VARIANT         24
FT                   /note="Q -> E (in HNPCC7; dbSNP:rs28937870)"
FT                   /evidence="ECO:0000269|PubMed:11586295"
FT                   /id="VAR_012946"
FT   VARIANT         93
FT                   /note="R -> G (in dbSNP:rs28756978)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_023338"
FT   VARIANT         120
FT                   /note="F -> S (in dbSNP:rs28756979)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_023339"
FT   VARIANT         231
FT                   /note="K -> Q (in dbSNP:rs28756981)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_023340"
FT   VARIANT         420
FT                   /note="V -> I (in dbSNP:rs28756982)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_023341"
FT   VARIANT         492
FT                   /note="L -> V (in dbSNP:rs28756983)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_023342"
FT   VARIANT         494
FT                   /note="H -> R (in dbSNP:rs760778201)"
FT                   /id="VAR_010790"
FT   VARIANT         499
FT                   /note="N -> S (in HNPCC7; dbSNP:rs28937871)"
FT                   /evidence="ECO:0000269|PubMed:11586295"
FT                   /id="VAR_012947"
FT   VARIANT         600
FT                   /note="R -> Q (in dbSNP:rs28756984)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_023343"
FT   VARIANT         606
FT                   /note="T -> P (in dbSNP:rs28756985)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_023344"
FT   VARIANT         624
FT                   /note="E -> Q (in HNPCC7; dbSNP:rs28756986)"
FT                   /evidence="ECO:0000269|PubMed:11586295, ECO:0000269|Ref.3"
FT                   /id="VAR_012948"
FT   VARIANT         647
FT                   /note="R -> C (in HNPCC7; dbSNP:rs28756987)"
FT                   /evidence="ECO:0000269|PubMed:11586295, ECO:0000269|Ref.3"
FT                   /id="VAR_012949"
FT   VARIANT         720
FT                   /note="Y -> C (in dbSNP:rs28756988)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_023345"
FT   VARIANT         723
FT                   /note="V -> I (in dbSNP:rs28756989)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_023346"
FT   VARIANT         741
FT                   /note="V -> F (in dbSNP:rs28756990)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_023347"
FT   VARIANT         797
FT                   /note="R -> H (in dbSNP:rs28756991)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_023348"
FT   VARIANT         817
FT                   /note="S -> G (in HNPCC7; dbSNP:rs143278116)"
FT                   /evidence="ECO:0000269|PubMed:11586295"
FT                   /id="VAR_012950"
FT   VARIANT         826
FT                   /note="N -> D (in dbSNP:rs175081)"
FT                   /evidence="ECO:0000269|PubMed:10615123,
FT                   ECO:0000269|PubMed:11292842, ECO:0000269|Ref.3"
FT                   /id="VAR_036781"
FT   VARIANT         844
FT                   /note="P -> L (in dbSNP:rs175080)"
FT                   /evidence="ECO:0000269|PubMed:10615123, ECO:0000269|Ref.3"
FT                   /id="VAR_023349"
FT   VARIANT         845
FT                   /note="S -> G (in dbSNP:rs28756992)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_023350"
FT   VARIANT         942
FT                   /note="T -> I (in dbSNP:rs17102999)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_023351"
FT   VARIANT         966
FT                   /note="S -> P (in dbSNP:rs17782839)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_023352"
FT   VARIANT         981
FT                   /note="G -> S (in HNPCC7; dbSNP:rs377337763)"
FT                   /evidence="ECO:0000269|PubMed:11586295"
FT                   /id="VAR_012951"
FT   VARIANT         1007
FT                   /note="N -> S (in HNPCC7; dbSNP:rs776639203)"
FT                   /evidence="ECO:0000269|PubMed:11586295"
FT                   /id="VAR_012952"
FT   VARIANT         1073
FT                   /note="D -> N (in dbSNP:rs28756993)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_023353"
FT   VARIANT         1105
FT                   /note="D -> E (in dbSNP:rs28757008)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_023354"
FT   VARIANT         1163
FT                   /note="G -> D (in dbSNP:rs28757011)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_023355"
FT   VARIANT         1319
FT                   /note="G -> R"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_023356"
FT   VARIANT         1394
FT                   /note="A -> T (in HNPCC7; dbSNP:rs138006166)"
FT                   /evidence="ECO:0000269|PubMed:11586295"
FT                   /id="VAR_012953"
FT   VARIANT         1451
FT                   /note="E -> K (in HNPCC7; dbSNP:rs28939071)"
FT                   /evidence="ECO:0000269|PubMed:11586295"
FT                   /id="VAR_012954"
SQ   SEQUENCE   1453 AA;  163711 MW;  3D063427457DB033 CRC64;
     MIKCLSVEVQ AKLRSGLAIS SLGQCVEELA LNSIDAEAKC VAVRVNMETF QVQVIDNGFG
     MGSDDVEKVG NRYFTSKCHS VQDLENPRFY GFRGEALANI ADMASAVEIS SKKNRTMKTF
     VKLFQSGKAL KACEADVTRA SAGTTVTVYN LFYQLPVRRK CMDPRLEFEK VRQRIEALSL
     MHPSISFSLR NDVSGSMVLQ LPKTKDVCSR FCQIYGLGKS QKLREISFKY KEFELSGYIS
     SEAHYNKNMQ FLFVNKRLVL RTKLHKLIDF LLRKESIICK PKNGPTSRQM NSSLRHRSTP
     ELYGIYVINV QCQFCEYDVC MEPAKTLIEF QNWDTLLFCI QEGVKMFLKQ EKLFVELSGE
     DIKEFSEDNG FSLFDATLQK RVTSDERSNF QEACNNILDS YEMFNLQSKA VKRKTTAENV
     NTQSSRDSEA TRKNTNDAFL YIYESGGPGH SKMTEPSLQN KDSSCSESKM LEQETIVASE
     AGENEKHKKS FLEHSSLENP CGTSLEMFLS PFQTPCHFEE SGQDLEIWKE STTVNGMAAN
     ILKNNRIQNQ PKRFKDATEV GCQPLPFATT LWGVHSAQTE KEKKKESSNC GRRNVFSYGR
     VKLCSTGFIT HVVQNEKTKS TETEHSFKNY VRPGPTRAQE TFGNRTRHSV ETPDIKDLAS
     TLSKESGQLP NKKNCRTNIS YGLENEPTAT YTMFSAFQEG SKKSQTDCIL SDTSPSFPWY
     RHVSNDSRKT DKLIGFSKPI VRKKLSLSSQ LGSLEKFKRQ YGKVENPLDT EVEESNGVTT
     NLSLQVEPDI LLKDKNRLEN SDVCKITTME HSDSDSSCQP ASHILNSEKF PFSKDEDCLE
     QQMPSLRESP MTLKELSLFN RKPLDLEKSS ESLASKLSRL KGSERETQTM GMMSRFNELP
     NSDSSRKDSK LCSVLTQDFC MLFNNKHEKT ENGVIPTSDS ATQDNSFNKN SKTHSNSNTT
     ENCVISETPL VLPYNNSKVT GKDSDVLIRA SEQQIGSLDS PSGMLMNPVE DATGDQNGIC
     FQSEESKARA CSETEESNTC CSDWQRHFDV ALGRMVYVNK MTGLSTFIAP TEDIQAACTK
     DLTTVAVDVV LENGSQYRCQ PFRSDLVLPF LPRARAERTV MRQDNRDTVD DTVSSESLQS
     LFSEWDNPVF ARYPEVAVDV SSGQAESLAV KIHNILYPYR FTKGMIHSMQ VLQQVDNKFI
     ACLMSTKTEE NGEAGGNLLV LVDQHAAHER IRLEQLIIDS YEKQQAQGSG RKKLLSSTLI
     PPLEITVTEE QRRLLWCYHK NLEDLGLEFV FPDTSDSLVL VGKVPLCFVE REANELRRGR
     STVTKSIVEE FIREQLELLQ TTGGIQGTLP LTVQKVLASQ ACHGAIKFND GLSLQESCRL
     IEALSSCQLP FQCAHGRPSM LPLADIDHLE QEKQIKPNLT KLRKMAQAWR LFGKAECDTR
     QSLQQSMPPC EPP
 
 
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