mutated Ligand Binding Site gene DataBase





About Us

Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 MUT
Gene summary
Basic gene Info.Gene symbolMUT
Gene namemethylmalonyl CoA mutase
CytomapUCSC genome browser: 6p12.3
Type of geneprotein-coding
Descriptionmethylmalonyl Coenzyme A mutasemethylmalonyl-CoA isomerasemethylmalonyl-CoA mutase, mitochondrial
Modification date20141219
dbXrefs MIM : 609058
Ensembl : ENSG00000146085
HPRD : 02014
Vega : OTTHUMG00000014814
ProteinUniProt: P22033
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MUT
BioGPS: 4594
PathwayNCI Pathway Interaction Database: MUT
Pathway Commons: MUT
ContextiHOP: MUT
ligand binding site mutation search in PubMed: MUT
UCL Cancer Institute: MUT
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0050667homocysteine metabolic process20031578

Ligand binding site mutations for MUT

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 MUT
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 MUT from PDB

Differential gene expression and gene-gene network for MUT
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 MUT and the right PPI network was created from samples without mutations in the LBS of MUT. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for MUT
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0268583Methylmalonic acidemia46Biomarker, GeneticVariation
umls:C1855114Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency6Biomarker, GeneticVariation
umls:C0025521Metabolism, Inborn Errors2Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for MUT
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|nutraceuticalDB00115CyanocobalaminSmall molecule
ApprovedDB00200HydroxocobalaminSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of MUT go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
B12COBALAMIN2xiqAA160 L358 L396 Q476 H627 I634 A676 F722
B12COBALAMIN2xiqBA160 L358 L396 Q476 H627 I634 A676 F722
B12COBALAMIN2xijAA160 Q476 H627 I634 A675 A676 F722

Conservation information for LBS of MUT
Multiple alignments for P22033 in multiple species
LBSAA sequence# speciesSpecies
A160GDVGMAGVAID2Homo sapiens, Mus musculus
A160GDVGMAGVAVD1Caenorhabditis elegans
A269YHMQEAGADAI2Homo sapiens, Mus musculus
A269YHMQEAGADAV1Caenorhabditis elegans
A349SLLLRAHCQTS2Homo sapiens, Mus musculus
A349SMMLRTHSQTS1Caenorhabditis elegans
A393NSFDEALGLPT3Homo sapiens, Caenorhabditis elegans, Mus musculus
A675GISTLAAGHKT1Homo sapiens
A675GASSLAAGHLT1Caenorhabditis elegans
A675GVSTLAAGHKT1Mus musculus
A676ISTLAAGHKTL1Homo sapiens
A676ASSLAAGHLTL1Caenorhabditis elegans
A676VSTLAAGHKTL1Mus musculus
D628GQDGHDRGAKV3Homo sapiens, Caenorhabditis elegans, Mus musculus
E268GYHMQEAGADA3Homo sapiens, Caenorhabditis elegans, Mus musculus
E392TNSFDEALGLP3Homo sapiens, Caenorhabditis elegans, Mus musculus
F102PTMYTFRPWTI1Homo sapiens
F102PTMYTQRPWTI1Caenorhabditis elegans
F102PTMYTYRPWTI1Mus musculus
F138GLSVAFDLATH3Homo sapiens, Caenorhabditis elegans, Mus musculus
F308PRLSFFWGIGM2Homo sapiens, Mus musculus
F308PRLSFFWGISM1Caenorhabditis elegans
F638VIATGFADLGF3Homo sapiens, Caenorhabditis elegans, Mus musculus
F722GVSNVFGPGTR2Homo sapiens, Mus musculus
F722GVALVFGPGTR1Caenorhabditis elegans
G355HCQTSGWSLTE2Homo sapiens, Mus musculus
G355HSQTSGWSLTE1Caenorhabditis elegans
G395FDEALGLPTVK2Homo sapiens, Mus musculus
G395FDEALGLPTKF1Caenorhabditis elegans
G626KMGQDGHDRGA3Homo sapiens, Caenorhabditis elegans, Mus musculus
G630DGHDRGAKVIA3Homo sapiens, Caenorhabditis elegans, Mus musculus
G702ILVMCGGVIPP2Homo sapiens, Mus musculus
G702ILVVAGGVIPP1Caenorhabditis elegans
G703LVMCGGVIPPQ2Homo sapiens, Mus musculus
G703LVVAGGVIPPQ1Caenorhabditis elegans
G723VSNVFGPGTRI2Homo sapiens, Mus musculus
G723VALVFGPGTRL1Caenorhabditis elegans
H143FDLATHRGYDS3Homo sapiens, Caenorhabditis elegans, Mus musculus
H265SISGYHMQEAG3Homo sapiens, Caenorhabditis elegans, Mus musculus
H350LLLRAHCQTSG2Homo sapiens, Mus musculus
H350MMLRTHSQTSG1Caenorhabditis elegans
H627MGQDGHDRGAK3Homo sapiens, Caenorhabditis elegans, Mus musculus
I634RGAKVIATGFA3Homo sapiens, Caenorhabditis elegans, Mus musculus
K255AKHMPKFNSIS1Homo sapiens
K255SREMPKFNSIS1Caenorhabditis elegans
K255AQHMPKFNSIS1Mus musculus
L140SVAFDLATHRG3Homo sapiens, Caenorhabditis elegans, Mus musculus
L358TSGWSLTEQDP3Homo sapiens, Caenorhabditis elegans, Mus musculus
L394SFDEALGLPTV2Homo sapiens, Mus musculus
L394SFDEALGLPTK1Caenorhabditis elegans
L396DEALGLPTVKS2Homo sapiens, Mus musculus
L396DEALGLPTKFS1Caenorhabditis elegans
L674VGISTLAAGHK1Homo sapiens
L674IGASSLAAGHL1Caenorhabditis elegans
L674VGVSTLAAGHK1Mus musculus
M99GPYPTMYTFRP1Homo sapiens
M99GPYPTMYTQRP1Caenorhabditis elegans
M99GPYPTMYTYRP1Mus musculus
N257HMPKFNSISIS2Homo sapiens, Mus musculus
N257EMPKFNSISIS1Caenorhabditis elegans
Q218LTGTIQNDILK2Homo sapiens, Mus musculus
Q218LAGTIQNDILK1Caenorhabditis elegans
Q352LRAHCQTSGWS2Homo sapiens, Mus musculus
Q352LRTHSQTSGWS1Caenorhabditis elegans
Q383VFGGTQSLHTN3Homo sapiens, Caenorhabditis elegans, Mus musculus
Q476CAARRQARIDS2Homo sapiens, Mus musculus
Q476AAAKKQARIDA1Caenorhabditis elegans
R103TMYTFRPWTIR1Homo sapiens
R103TMYTQRPWTIR1Caenorhabditis elegans
R103TMYTYRPWTIR1Mus musculus
R108RPWTIRQYAGF3Homo sapiens, Caenorhabditis elegans, Mus musculus
R228KEFMVRNTYIF2Homo sapiens, Mus musculus
R228KEFMVRNTYIY1Caenorhabditis elegans
R304DEFAPRLSFFW2Homo sapiens, Mus musculus
R304DAFAPRLSFFW1Caenorhabditis elegans
R348KSLLLRAHCQT2Homo sapiens, Mus musculus
R348KSMMLRTHSQT1Caenorhabditis elegans
R629QDGHDRGAKVI3Homo sapiens, Caenorhabditis elegans, Mus musculus
S135GQQGLSVAFDL3Homo sapiens, Caenorhabditis elegans, Mus musculus
S185EKMSVSMTMNG3Homo sapiens, Caenorhabditis elegans, Mus musculus
S306FAPRLSFFWGI3Homo sapiens, Caenorhabditis elegans, Mus musculus
S672HAVGISTLAAG1Homo sapiens
S672HVIGASSLAAG1Caenorhabditis elegans
S672HAVGVSTLAAG1Mus musculus
T106TFRPWTIRQYA1Homo sapiens
T106TQRPWTIRQYA1Caenorhabditis elegans
T106TYRPWTIRQYA1Mus musculus
T187MSVSMTMNGAV3Homo sapiens, Caenorhabditis elegans, Mus musculus
T216EKLTGTIQNDI2Homo sapiens, Mus musculus
T216KLLAGTIQNDI1Caenorhabditis elegans
T230FMVRNTYIFPP2Homo sapiens, Mus musculus
T230FMVRNTYIYPP1Caenorhabditis elegans
T726VFGPGTRIPKA1Homo sapiens
T726VFGPGTRLPAC1Caenorhabditis elegans
T726VFGPGTRIPRA1Mus musculus
T98RGPYPTMYTFR1Homo sapiens
T98RGPYPTMYTQR1Caenorhabditis elegans
T98RGPYPTMYTYR1Mus musculus
V227LKEFMVRNTYI3Homo sapiens, Caenorhabditis elegans, Mus musculus
V704VMCGGVIPPQD2Homo sapiens, Mus musculus
V704VVAGGVIPPQD1Caenorhabditis elegans
W356CQTSGWSLTEQ2Homo sapiens, Mus musculus
W356SQTSGWSLTEQ1Caenorhabditis elegans
Y110WTIRQYAGFST3Homo sapiens, Caenorhabditis elegans, Mus musculus
Y264ISISGYHMQEA3Homo sapiens, Caenorhabditis elegans, Mus musculus
Y96FTRGPYPTMYT3Homo sapiens, Caenorhabditis elegans, Mus musculus

Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas