mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for MLH1
Gene summary
Basic gene Info.Gene symbolMLH1
Gene namemutL homolog 1
CytomapUCSC genome browser: 3p21.3
Type of geneprotein-coding
DescriptionDNA mismatch repair protein Mlh1mutL homolog 1, colon cancer, nonpolyposis type 2
Modification date20141222
dbXrefs MIM : 120436
Ensembl : ENSG00000076242
HPRD : 00390
Vega : OTTHUMG00000130797
ProteinUniProt: P40692
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MLH1
BioGPS: 4292
PathwayNCI Pathway Interaction Database: MLH1
Pathway Commons: MLH1
ContextiHOP: MLH1
ligand binding site mutation search in PubMed: MLH1
UCL Cancer Institute: MLH1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for MLH1
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.

Protein structure related information for MLH1
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for MLH1 from PDB

Differential gene expression and gene-gene network for MLH1
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of MLH1 and the right PPI network was created from samples without mutations in the LBS of MLH1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for MLH1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0009404Colorectal Neoplasms71AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification
umls:C0009405Colorectal Neoplasms, Hereditary Nonpolyposis51AlteredExpression, Biomarker, GeneticVariation
umls:C0265325Turcot syndrome43Biomarker, GeneticVariation
umls:C1321489Muir-Torre Syndrome21Biomarker, GeneticVariation
umls:C0027627Neoplasm Metastasis13Biomarker, GeneticVariation
umls:C0919267Ovarian Neoplasms11AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification
umls:C0024299Lymphoma8AlteredExpression, Biomarker
umls:C0033578Prostatic Neoplasms3Biomarker, GeneticVariation
umls:C0027672Neoplastic Syndromes, Hereditary2Biomarker, GeneticVariation
umls:C1333991Lynch Syndrome II1Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
SNOMED CT:61665008
SNOMED CT:315058005
95611G101SUncertain significanceGermlineGeneReviews:NBK1211
SNOMED CT:315058005

Pharmacological information for MLH1
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of MLH1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ATPATP3na3AG67 R100 G101
ADPADP4p7aAG67 R100 G101

Conservation information for LBS of MLH1
Multiple alignments for P40692 in multiple species
LBSAA sequence# speciesSpecies
A103GFRGEALASIS5Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Mus musculus, Rattus norvegicus
A103GFRGEALASMT1Arabidopsis thaliana
A42ENCLDAKSTNI2Mus musculus, Rattus norvegicus
A42ENCLDAKSTSI1Homo sapiens
A42ENSIDANATMI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A42ENSLDAGSTSI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A42ENSLDADSSSI1Arabidopsis thaliana
D41IENCLDAKSTS1Homo sapiens
D41MENSIDANATM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D41IENSLDAGSTS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D41VENSLDADSSS1Arabidopsis thaliana
D41IENCLDAKSTN1Mus musculus
D41TENCLDAKSTN1Rattus norvegicus
D63LIQIQDNGTGI3Homo sapiens, Mus musculus, Rattus norvegicus
D63VLQITDNGSGI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D63LLQITDNGSGI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D63LIQVSDDGHGI1Arabidopsis thaliana
E34ANAIKEMIENC2Homo sapiens, Mus musculus
E34VNALKEMMENS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E34ENAIKELIENS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E34VSAVKELVENS1Arabidopsis thaliana
E34ANAIKEMTENC1Rattus norvegicus
G101TYGFRGEALAS4Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Mus musculus, Rattus norvegicus
G101TFGFRGEALAS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G101SMGFRGEALAS1Arabidopsis thaliana
G67QDNGTGIRKED3Homo sapiens, Mus musculus, Rattus norvegicus
G67TDNGSGINKAD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G67TDNGSGIQYDD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G67SDDGHGIRRED1Arabidopsis thaliana
I68DNGTGIRKEDL3Homo sapiens, Mus musculus, Rattus norvegicus
I68DNGSGINKADL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I68DNGSGIQYDDL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I68DDGHGIRREDL1Arabidopsis thaliana
K84RFTTSKLQTFE2Mus musculus, Rattus norvegicus
K84RFTTSKLQSFE1Homo sapiens
K84RFTTSKLQKFE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K84RFSTSKIDNFN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K84RHTTSKLTKFE1Arabidopsis thaliana
L91QSFEDLASIST1Homo sapiens
L91QKFEDLSQIQT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L91DNFNDLQHLQT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L91TKFEDLFSLSS1Arabidopsis thaliana
L91QTFEDLASIST1Mus musculus
L91QTFEDLAMIST1Rattus norvegicus
N38KEMIENCLDAK2Homo sapiens, Mus musculus
N38KEMMENSIDAN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N38KELIENSLDAG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N38KELVENSLDAD1Arabidopsis thaliana
N38KEMTENCLDAK1Rattus norvegicus
R100STYGFRGEALA3Homo sapiens, Mus musculus, Rattus norvegicus
R100QTYGFRGEALA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R100QTFGFRGEALA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R100SSMGFRGEALA1Arabidopsis thaliana
S83ERFTTSKLQTF2Mus musculus, Rattus norvegicus
S83ERFTTSKLQSF1Homo sapiens
S83ERFTTSKLQKF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S83QRFSTSKIDNF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S83ERHTTSKLTKF1Arabidopsis thaliana
T148AGNQGTLITVE2Mus musculus, Rattus norvegicus
T148AGNQGTQITVE1Homo sapiens
T148AGKDGTTILVE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T148AGKQGTVITAE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T148AAVKGTQIMVE1Arabidopsis thaliana
T81VCERFTTSKLQ3Homo sapiens, Mus musculus, Rattus norvegicus
T81LCERFTTSKLQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T81LCQRFSTSKID1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T81LCERHTTSKLT1Arabidopsis thaliana
T82CERFTTSKLQT2Mus musculus, Rattus norvegicus
T82CERFTTSKLQS1Homo sapiens
T82CERFTTSKLQK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T82CQRFSTSKIDN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T82CERHTTSKLTK1Arabidopsis thaliana
V76EDLDIVCERFT3Homo sapiens, Mus musculus, Rattus norvegicus
V76ADLPILCERFT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V76DDLPYLCQRFS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V76EDLPILCERHT1Arabidopsis thaliana

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