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mutLBSgeneDB |
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| Gene summary for MUT |
 Gene summary |
| Basic gene Info. | Gene symbol | MUT |
| Gene name | methylmalonyl CoA mutase | |
| Synonyms | MCM | |
| Cytomap | UCSC genome browser: 6p12.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000255.3, | |
| Description | methylmalonyl Coenzyme A mutasemethylmalonyl-CoA isomerasemethylmalonyl-CoA mutase, mitochondrial | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 609058 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000146085 | ||
| HPRD : 02014 | ||
| Vega : OTTHUMG00000014814 | ||
| Protein | UniProt: P22033 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MUT | |
| BioGPS: 4594 | ||
| Pathway | NCI Pathway Interaction Database: MUT | |
| KEGG: MUT | ||
| REACTOME: MUT | ||
| Pathway Commons: MUT | ||
| Context | iHOP: MUT | |
| ligand binding site mutation search in PubMed: MUT | ||
| UCL Cancer Institute: MUT | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0050667 | homocysteine metabolic process | 20031578 |
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| Ligand binding site mutations for MUT |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F102 | T101A | BRCA | 1 | L396 | T398A | KIRC | 1 | A676 | H678R | LUSC | 1 | I634 | A635D | LUSC | 1 | Q476 | Q476P | SKCM | 1 | F722 | N720S | SKCM | 1 | L358 | L358R | STAD | 1 | H627 | H627Y | STAD | 1 | A160 | V162A | UCEC | 1 | A675 | A675T | UCEC | 1 |
| 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 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | L396 | T398A | -1.1595724 | F102 | T101A | -1.1283517 | H627 | H627Y | -1.0482042 | I634 | A635D | -0.98270416 | A675 | A675T | -0.69417794 | A160 | V162A | -0.60880375 | L358 | L358R | -0.51690764 | F722 | N720S | -0.36119562 | Q476 | Q476P | -0.29931105 | A676 | H678R | -0.086579584 |
| (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 |
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| 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) |
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| Phenotype information for MUT |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0268583 | Methylmalonic acidemia | 46 | Biomarker, GeneticVariation |
| umls:C1855114 | Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency | 6 | Biomarker, GeneticVariation |
| umls:C0025521 | Metabolism, Inborn Errors | 2 | Biomarker |
| umls:C0028754 | Obesity | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|nutraceutical | DB00115 | Cyanocobalamin | Small molecule |  |
| Approved | DB00200 | Hydroxocobalamin | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of MUT go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | B12 | COBALAMIN | 2xiq | A | A160 L358 L396 Q476 H627 I634 A676 F722 | B12 | COBALAMIN | 2xiq | B | A160 L358 L396 Q476 H627 I634 A676 F722 | B12 | COBALAMIN | 2xij | A | A160 Q476 H627 I634 A675 A676 F722 | MLC | MALONYL-COENZYME A | 2xiq | A | F102 | MLC | MALONYL-COENZYME A | 2xiq | B | F102 |
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| Conservation information for LBS of MUT |
| Multiple alignments for P22033 in multiple species |
| LBS | AA sequence | # species | Species | A160 | GDVGMAGVAID | 2 | Homo sapiens, Mus musculus | A160 | GDVGMAGVAVD | 1 | Caenorhabditis elegans | A269 | YHMQEAGADAI | 2 | Homo sapiens, Mus musculus | A269 | YHMQEAGADAV | 1 | Caenorhabditis elegans | A349 | SLLLRAHCQTS | 2 | Homo sapiens, Mus musculus | A349 | SMMLRTHSQTS | 1 | Caenorhabditis elegans | A393 | NSFDEALGLPT | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | A675 | GISTLAAGHKT | 1 | Homo sapiens | A675 | GASSLAAGHLT | 1 | Caenorhabditis elegans | A675 | GVSTLAAGHKT | 1 | Mus musculus | A676 | ISTLAAGHKTL | 1 | Homo sapiens | A676 | ASSLAAGHLTL | 1 | Caenorhabditis elegans | A676 | VSTLAAGHKTL | 1 | Mus musculus | D628 | GQDGHDRGAKV | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | E268 | GYHMQEAGADA | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | E392 | TNSFDEALGLP | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | F102 | PTMYTFRPWTI | 1 | Homo sapiens | F102 | PTMYTQRPWTI | 1 | Caenorhabditis elegans | F102 | PTMYTYRPWTI | 1 | Mus musculus | F138 | GLSVAFDLATH | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | F308 | PRLSFFWGIGM | 2 | Homo sapiens, Mus musculus | F308 | PRLSFFWGISM | 1 | Caenorhabditis elegans | F638 | VIATGFADLGF | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | F722 | GVSNVFGPGTR | 2 | Homo sapiens, Mus musculus | F722 | GVALVFGPGTR | 1 | Caenorhabditis elegans | G355 | HCQTSGWSLTE | 2 | Homo sapiens, Mus musculus | G355 | HSQTSGWSLTE | 1 | Caenorhabditis elegans | G395 | FDEALGLPTVK | 2 | Homo sapiens, Mus musculus | G395 | FDEALGLPTKF | 1 | Caenorhabditis elegans | G626 | KMGQDGHDRGA | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | G630 | DGHDRGAKVIA | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | G702 | ILVMCGGVIPP | 2 | Homo sapiens, Mus musculus | G702 | ILVVAGGVIPP | 1 | Caenorhabditis elegans | G703 | LVMCGGVIPPQ | 2 | Homo sapiens, Mus musculus | G703 | LVVAGGVIPPQ | 1 | Caenorhabditis elegans | G723 | VSNVFGPGTRI | 2 | Homo sapiens, Mus musculus | G723 | VALVFGPGTRL | 1 | Caenorhabditis elegans | H143 | FDLATHRGYDS | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | H265 | SISGYHMQEAG | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | H350 | LLLRAHCQTSG | 2 | Homo sapiens, Mus musculus | H350 | MMLRTHSQTSG | 1 | Caenorhabditis elegans | H627 | MGQDGHDRGAK | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | I634 | RGAKVIATGFA | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | K255 | AKHMPKFNSIS | 1 | Homo sapiens | K255 | SREMPKFNSIS | 1 | Caenorhabditis elegans | K255 | AQHMPKFNSIS | 1 | Mus musculus | L140 | SVAFDLATHRG | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | L358 | TSGWSLTEQDP | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | L394 | SFDEALGLPTV | 2 | Homo sapiens, Mus musculus | L394 | SFDEALGLPTK | 1 | Caenorhabditis elegans | L396 | DEALGLPTVKS | 2 | Homo sapiens, Mus musculus | L396 | DEALGLPTKFS | 1 | Caenorhabditis elegans | L674 | VGISTLAAGHK | 1 | Homo sapiens | L674 | IGASSLAAGHL | 1 | Caenorhabditis elegans | L674 | VGVSTLAAGHK | 1 | Mus musculus | M99 | GPYPTMYTFRP | 1 | Homo sapiens | M99 | GPYPTMYTQRP | 1 | Caenorhabditis elegans | M99 | GPYPTMYTYRP | 1 | Mus musculus | N257 | HMPKFNSISIS | 2 | Homo sapiens, Mus musculus | N257 | EMPKFNSISIS | 1 | Caenorhabditis elegans | Q218 | LTGTIQNDILK | 2 | Homo sapiens, Mus musculus | Q218 | LAGTIQNDILK | 1 | Caenorhabditis elegans | Q352 | LRAHCQTSGWS | 2 | Homo sapiens, Mus musculus | Q352 | LRTHSQTSGWS | 1 | Caenorhabditis elegans | Q383 | VFGGTQSLHTN | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | Q476 | CAARRQARIDS | 2 | Homo sapiens, Mus musculus | Q476 | AAAKKQARIDA | 1 | Caenorhabditis elegans | R103 | TMYTFRPWTIR | 1 | Homo sapiens | R103 | TMYTQRPWTIR | 1 | Caenorhabditis elegans | R103 | TMYTYRPWTIR | 1 | Mus musculus | R108 | RPWTIRQYAGF | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | R228 | KEFMVRNTYIF | 2 | Homo sapiens, Mus musculus | R228 | KEFMVRNTYIY | 1 | Caenorhabditis elegans | R304 | DEFAPRLSFFW | 2 | Homo sapiens, Mus musculus | R304 | DAFAPRLSFFW | 1 | Caenorhabditis elegans | R348 | KSLLLRAHCQT | 2 | Homo sapiens, Mus musculus | R348 | KSMMLRTHSQT | 1 | Caenorhabditis elegans | R629 | QDGHDRGAKVI | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | S135 | GQQGLSVAFDL | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | S185 | EKMSVSMTMNG | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | S306 | FAPRLSFFWGI | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | S672 | HAVGISTLAAG | 1 | Homo sapiens | S672 | HVIGASSLAAG | 1 | Caenorhabditis elegans | S672 | HAVGVSTLAAG | 1 | Mus musculus | T106 | TFRPWTIRQYA | 1 | Homo sapiens | T106 | TQRPWTIRQYA | 1 | Caenorhabditis elegans | T106 | TYRPWTIRQYA | 1 | Mus musculus | T187 | MSVSMTMNGAV | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | T216 | EKLTGTIQNDI | 2 | Homo sapiens, Mus musculus | T216 | KLLAGTIQNDI | 1 | Caenorhabditis elegans | T230 | FMVRNTYIFPP | 2 | Homo sapiens, Mus musculus | T230 | FMVRNTYIYPP | 1 | Caenorhabditis elegans | T726 | VFGPGTRIPKA | 1 | Homo sapiens | T726 | VFGPGTRLPAC | 1 | Caenorhabditis elegans | T726 | VFGPGTRIPRA | 1 | Mus musculus | T98 | RGPYPTMYTFR | 1 | Homo sapiens | T98 | RGPYPTMYTQR | 1 | Caenorhabditis elegans | T98 | RGPYPTMYTYR | 1 | Mus musculus | V227 | LKEFMVRNTYI | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | V704 | VMCGGVIPPQD | 2 | Homo sapiens, Mus musculus | V704 | VVAGGVIPPQD | 1 | Caenorhabditis elegans | W356 | CQTSGWSLTEQ | 2 | Homo sapiens, Mus musculus | W356 | SQTSGWSLTEQ | 1 | Caenorhabditis elegans | Y110 | WTIRQYAGFST | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | Y264 | ISISGYHMQEA | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus | Y96 | FTRGPYPTMYT | 3 | Homo sapiens, Caenorhabditis elegans, Mus musculus |
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