mutLBSgeneDB

mutLBSgeneDB
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 MMAA
Gene summary
Basic gene Info.Gene symbolMMAA
Gene namemethylmalonic aciduria (cobalamin deficiency) cblA type
SynonymscblA
CytomapUCSC genome browser: 4q31.21
Type of geneprotein-coding
RefGenesNM_172250.2,
Descriptionmethylmalonic aciduria type A protein, mitochondrial
Modification date20141219
dbXrefs MIM : 607481
HGNC : HGNC
Ensembl : ENSG00000151611
HPRD : 07394
Vega : OTTHUMG00000161369
ProteinUniProt: Q8IVH4
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MMAA
BioGPS: 166785
PathwayNCI Pathway Interaction Database: MMAA
KEGG: MMAA
REACTOME: MMAA
Pathway Commons: MMAA
ContextiHOP: MMAA
ligand binding site mutation search in PubMed: MMAA
UCL Cancer Institute: MMAA
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for MMAA
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
S328R326CCOAD3
D292D294NSTAD1
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.


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Protein structure related information for MMAA
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
D292D294N-1.4618115
S328R326C-0.60698451
(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 MMAA from PDB
PDB IDPDB titlePDB structure
2WWWCrystal Structure of Methylmalonic Acidemia Type A Protein

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


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Phenotype information for MMAA
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1855109Methylmalonic aciduria cblA type3Biomarker, GeneticVariation

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

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Pharmacological information for MMAA

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 MMAA go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
GDPGUANOSINE-5'-DIPHOSPHATE2wwwAD292 S328
GDPGUANOSINE-5'-DIPHOSPHATE2wwwBD292 S328
GDPGUANOSINE-5'-DIPHOSPHATE2wwwCD292 S328
GDPGUANOSINE-5'-DIPHOSPHATE2wwwDD292 S328


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Conservation information for LBS of MMAA
Multiple alignments for Q8IVH4 in multiple species
LBSAA sequence# speciesSpecies
A154SGPPGAGKSTF2Homo sapiens, Mus musculus
A154SGSPGVGKSSF1Caenorhabditis elegans
A329VIRISARSGEG2Homo sapiens, Mus musculus
A329VMRSSIMDKES1Caenorhabditis elegans
D292AVTKSDGDLIV1Homo sapiens
D292VVTKDDGDLKA1Caenorhabditis elegans
D292VITKSDGDLIV1Mus musculus
G153LSGPPGAGKST2Homo sapiens, Mus musculus
G153ISGSPGVGKSS1Caenorhabditis elegans
G155GPPGAGKSTFI2Homo sapiens, Mus musculus
G155GSPGVGKSSFI1Caenorhabditis elegans
K156PPGAGKSTFIE2Homo sapiens, Mus musculus
K156SPGVGKSSFIE1Caenorhabditis elegans
K290LVAVTKSDGDL1Homo sapiens
K290LLVVTKDDGDL1Caenorhabditis elegans
K290LVVITKSDGDL1Mus musculus
R330IRISARSGEGI2Homo sapiens, Mus musculus
R330MRSSIMDKESV1Caenorhabditis elegans
S157PGAGKSTFIEY1Homo sapiens
S157PGVGKSSFIEA1Caenorhabditis elegans
S157PGAGKSTFIEC1Mus musculus
S328KVIRISARSGE2Homo sapiens, Mus musculus
S328KVMRSSIMDKE1Caenorhabditis elegans
T158GAGKSTFIEYF1Homo sapiens
T158GVGKSSFIEAL1Caenorhabditis elegans
T158GAGKSTFIECF1Mus musculus


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