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P22033

- MUTA_HUMAN

UniProt

P22033 - MUTA_HUMAN

Protein

Methylmalonyl-CoA mutase, mitochondrial

Gene

MUT

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 162 (01 Oct 2014)
      Sequence version 4 (11 Jan 2011)
      Previous versions | rss
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    Functioni

    Involved in the degradation of several amino acids, odd-chain fatty acids and cholesterol via propionyl-CoA to the tricarboxylic acid cycle. MCM has different functions in other species.

    Catalytic activityi

    (R)-methylmalonyl-CoA = succinyl-CoA.

    Cofactori

    Adenosylcobalamin.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi627 – 6271Cobalt (cobalamin axial ligand)By similarity

    GO - Molecular functioni

    1. cobalamin binding Source: UniProtKB-KW
    2. metal ion binding Source: UniProtKB-KW
    3. methylmalonyl-CoA mutase activity Source: ProtInc
    4. modified amino acid binding Source: UniProtKB

    GO - Biological processi

    1. cellular lipid metabolic process Source: Reactome
    2. cobalamin metabolic process Source: Reactome
    3. fatty acid beta-oxidation Source: Reactome
    4. homocysteine metabolic process Source: UniProtKB
    5. post-embryonic development Source: Ensembl
    6. short-chain fatty acid catabolic process Source: Reactome
    7. small molecule metabolic process Source: Reactome
    8. vitamin metabolic process Source: Reactome
    9. water-soluble vitamin metabolic process Source: Reactome

    Keywords - Molecular functioni

    Isomerase

    Keywords - Ligandi

    Cobalamin, Cobalt, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS07322-MONOMER.
    ReactomeiREACT_163862. Cobalamin (Cbl, vitamin B12) transport and metabolism.
    REACT_169313. Defective MUT causes methylmalonic aciduria mut type.
    REACT_169316. Defective MMAA causes methylmalonic aciduria type cblA.
    REACT_993. Propionyl-CoA catabolism.
    SABIO-RKP22033.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Methylmalonyl-CoA mutase, mitochondrial (EC:5.4.99.2)
    Short name:
    MCM
    Alternative name(s):
    Methylmalonyl-CoA isomerase
    Gene namesi
    Name:MUT
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:7526. MUT.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrial matrix Source: Reactome
    2. mitochondrion Source: ProtInc

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Methylmalonic aciduria type mut (MMAM) [MIM:251000]: An often fatal disorder of organic acid metabolism. Common clinical features include lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early death. Two forms of the disease are distinguished by the presence (mut-) or absence (mut0) of residual enzyme activity. Mut0 patients have more severe neurological manifestations of the disease than do MUT- patients. MMAM is unresponsive to vitamin B12 therapy.14 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti86 – 861P → L in MMAM; mut0. 1 Publication
    VAR_026592
    Natural varianti87 – 871G → E in MMAM; mut0. 1 Publication
    VAR_026593
    Natural varianti93 – 931R → H in MMAM; mut0. 2 Publications
    Corresponds to variant rs121918251 [ dbSNP | Ensembl ].
    VAR_004409
    Natural varianti94 – 941G → R in MMAM; mut0. 1 Publication
    VAR_026594
    Natural varianti94 – 941G → V in MMAM; mut- and mut0. 2 Publications
    VAR_022393
    Natural varianti95 – 951P → R in MMAM; mut0. 1 Publication
    VAR_026595
    Natural varianti105 – 1051W → R in MMAM; mut0. 2 Publications
    VAR_004410
    Natural varianti108 – 1081R → C in MMAM; mut0. 1 Publication
    Corresponds to variant rs121918257 [ dbSNP | Ensembl ].
    VAR_026596
    Natural varianti108 – 1081R → G in MMAM; mut-. 1 Publication
    VAR_026597
    Natural varianti108 – 1081R → H in MMAM; mut0. 2 Publications
    VAR_022394
    Natural varianti109 – 1091Q → R in MMAM; mut0. 1 Publication
    VAR_023473
    Natural varianti137 – 1371A → V in MMAM; mut0. 1 Publication
    VAR_022395
    Natural varianti145 – 1451G → S in MMAM; mut0. 1 Publication
    VAR_026598
    Natural varianti148 – 1481S → L in MMAM. 1 Publication
    VAR_022396
    Natural varianti156 – 1561D → N in MMAM; mut-. 1 Publication
    VAR_022397
    Natural varianti158 – 1581G → V in MMAM; mut0. 1 Publication
    VAR_022398
    Natural varianti174 – 1741F → S in MMAM; mut0. 2 Publications
    VAR_022399
    Natural varianti186 – 1861M → V in MMAM; mut-. 1 Publication
    VAR_026599
    Natural varianti189 – 1891N → K in MMAM; mut-. 1 Publication
    VAR_026600
    Natural varianti191 – 1911A → E in MMAM; mut- and mut0. 4 Publications
    VAR_004411
    Natural varianti197 – 1971A → E in MMAM; mut0. 1 Publication
    VAR_026601
    Natural varianti203 – 2031G → R in MMAM; mut0. 3 Publications
    VAR_022400
    Natural varianti215 – 2151G → C in MMAM; mut- and mut0. 1 Publication
    VAR_026602
    Natural varianti215 – 2151G → S in MMAM; mut0. 2 Publications
    VAR_022401
    Natural varianti218 – 2181Q → H in MMAM; mut0. 2 Publications
    VAR_022402
    Natural varianti219 – 2191N → Y in MMAM; mut0. 4 Publications
    VAR_022403
    Natural varianti228 – 2281R → Q in MMAM; mut0. 2 Publications
    VAR_004412
    Natural varianti230 – 2301T → I in MMAM; mut-. 1 Publication
    VAR_026603
    Natural varianti231 – 2311Y → N in MMAM; mut-. 2 Publications
    VAR_004413
    Natural varianti262 – 2621S → N in MMAM; mut0. 2 Publications
    VAR_022404
    Natural varianti265 – 2651H → Y in MMAM; mut-. 1 Publication
    VAR_026604
    Natural varianti281 – 2811L → S in MMAM; mut0. 1 Publication
    VAR_026605
    Natural varianti291 – 2911G → E in MMAM; mut0. 1 Publication
    VAR_026606
    Natural varianti293 – 2931Q → P in MMAM; mut0. 1 Publication
    VAR_022405
    Natural varianti305 – 3051L → S in MMAM; mut0. 1 Publication
    VAR_026607
    Natural varianti306 – 3061S → F in MMAM; mut0. 1 Publication
    VAR_026608
    Natural varianti312 – 3121G → V in MMAM; mut0. 2 Publications
    VAR_004414
    Natural varianti316 – 3161Y → C in MMAM; mut-. 1 Publication
    VAR_026609
    Natural varianti324 – 3241A → T in MMAM; mut-. 2 Publications
    VAR_023474
    Natural varianti328 – 3281L → F in MMAM; mut0. 1 Publication
    VAR_022406
    Natural varianti328 – 3281L → P in MMAM; mut0. 1 Publication
    VAR_023475
    Natural varianti346 – 3461Missing in MMAM; mut0. 2 Publications
    VAR_004415
    Natural varianti347 – 3471L → R in MMAM; mut0. 1 Publication
    VAR_026610
    Natural varianti350 – 3501H → Y in MMAM; mut0. 1 Publication
    VAR_026611
    Natural varianti368 – 3681V → D in MMAM.
    VAR_004416
    Natural varianti369 – 3691R → C in MMAM; mut0. 1 Publication
    VAR_026612
    Natural varianti369 – 3691R → H in MMAM; mut- and mut0. 2 Publications
    VAR_004417
    Natural varianti370 – 3701T → P in MMAM; mut0. 1 Publication
    VAR_026613
    Natural varianti377 – 3771A → E in MMAM; mut0. 2 Publications
    VAR_004418
    Natural varianti383 – 3831Q → H in MMAM; mut0. 1 Publication
    VAR_026614
    Natural varianti383 – 3831Q → P in MMAM; mut0. 1 Publication
    VAR_026615
    Natural varianti386 – 3861H → N in MMAM; mut0. 1 Publication
    VAR_026616
    Natural varianti388 – 3881N → H in MMAM; mut0. 1 Publication
    VAR_026617
    Natural varianti389 – 3891Missing in MMAM; mut0. 1 Publication
    VAR_026618
    Natural varianti412 – 4121Missing in MMAM; mut0. 1 Publication
    VAR_026619
    Natural varianti426 – 4261G → R in MMAM; mut-. 1 Publication
    VAR_026620
    Natural varianti427 – 4271G → D in MMAM; mut0. 1 Publication
    VAR_026621
    Natural varianti518 – 5181L → P in MMAM; mut0. 1 Publication
    VAR_026622
    Natural varianti535 – 5351A → P in MMAM; mut0. 1 Publication
    VAR_022408
    Natural varianti560 – 5601C → Y in MMAM; mut0. 1 Publication
    VAR_026623
    Natural varianti566 – 5661T → R in MMAM; mut0. 1 Publication
    VAR_026624
    Natural varianti573 – 5731F → S in MMAM; mut-. 1 Publication
    VAR_026625
    Natural varianti587 – 5871Y → C in MMAM; mut-. 1 Publication
    VAR_022409
    Natural varianti615 – 6151P → R in MMAM; mut0. 1 Publication
    VAR_026626
    Natural varianti615 – 6151P → T in MMAM; mut0. 1 Publication
    VAR_022410
    Natural varianti616 – 6161R → C in MMAM; mut0. 2 Publications
    VAR_023476
    Natural varianti617 – 6171L → R in MMAM. 1 Publication
    VAR_023477
    Natural varianti621 – 6211K → N in MMAM; mut0. 1 Publication
    VAR_022411
    Natural varianti623 – 6231G → R in MMAM; mut0. 4 Publications
    VAR_004420
    Natural varianti624 – 6241Q → R in MMAM. 1 Publication
    VAR_022412
    Natural varianti626 – 6261G → C in MMAM; mut-. 1 Publication
    VAR_004421
    Natural varianti627 – 6271H → R in MMAM; mut0. 2 Publications
    VAR_022413
    Natural varianti630 – 6301G → E in MMAM; mut0. 2 Publications
    VAR_004422
    Natural varianti633 – 6331V → G in MMAM; mut-. 2 Publications
    VAR_004423
    Natural varianti637 – 6371G → E in MMAM; mut-. 1 Publication
    VAR_022414
    Natural varianti637 – 6371G → R in MMAM; mut0. 1 Publication
    VAR_026627
    Natural varianti638 – 6381F → I in MMAM; mut0. 1 Publication
    VAR_022415
    Natural varianti640 – 6401D → Y in MMAM; mut0. 1 Publication
    VAR_022416
    Natural varianti642 – 6421G → R in MMAM; mut-. 2 Publications
    VAR_022417
    Natural varianti648 – 6481G → D in MMAM; mut-. 1 Publication
    VAR_004424
    Natural varianti669 – 6691V → E in MMAM; mut0.
    VAR_004425
    Natural varianti678 – 6781H → R in MMAM; mut-. 2 Publications
    VAR_004427
    Natural varianti684 – 6841E → EL in MMAM; mut-. 1 Publication
    VAR_004428
    Natural varianti685 – 6851L → R in MMAM; mut-. 2 Publications
    VAR_004429
    Natural varianti694 – 6941R → W in MMAM; mut- and mut0. 4 Publications
    VAR_004430
    Natural varianti700 – 7001M → K in MMAM; mut-. 2 Publications
    VAR_022418
    Natural varianti703 – 7031G → R in MMAM; mut0. 2 Publications
    VAR_004431
    Natural varianti717 – 7171G → V in MMAM; mut-; interfers with the binding of the cofactor to the apoenzyme. 5 Publications
    VAR_004432

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi251000. phenotype.
    Orphaneti79312. Vitamin B12-unresponsive methylmalonic acidemia type mut-.
    289916. Vitamin B12-unresponsive methylmalonic acidemia type mut0.
    PharmGKBiPA31327.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 3232MitochondrionAdd
    BLAST
    Chaini33 – 750718Methylmalonyl-CoA mutase, mitochondrialPRO_0000019293Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei89 – 891N6-acetyllysineBy similarity
    Modified residuei212 – 2121N6-acetyllysineBy similarity
    Modified residuei335 – 3351N6-acetyllysineBy similarity
    Modified residuei343 – 3431N6-succinyllysineBy similarity
    Modified residuei595 – 5951N6-succinyllysineBy similarity
    Modified residuei602 – 6021N6-acetyllysineBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiP22033.
    PaxDbiP22033.
    PRIDEiP22033.

    PTM databases

    PhosphoSiteiP22033.

    Expressioni

    Gene expression databases

    BgeeiP22033.
    CleanExiHS_MUT.
    GenevestigatoriP22033.

    Organism-specific databases

    HPAiHPA035971.
    HPA035972.

    Interactioni

    Subunit structurei

    Homodimer.

    Protein-protein interaction databases

    BioGridi110680. 4 interactions.
    IntActiP22033. 2 interactions.
    MINTiMINT-3009603.
    STRINGi9606.ENSP00000274813.

    Structurei

    Secondary structure

    1
    750
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi30 – 334
    Helixi41 – 5010
    Turni51 – 533
    Helixi56 – 594
    Helixi75 – 784
    Beta strandi95 – 984
    Beta strandi101 – 1033
    Beta strandi106 – 1116
    Helixi116 – 12813
    Beta strandi133 – 1364
    Helixi140 – 1434
    Helixi151 – 1533
    Turni154 – 1596
    Beta strandi160 – 1623
    Helixi167 – 1737
    Turni174 – 1763
    Turni179 – 1813
    Beta strandi183 – 1864
    Helixi192 – 20514
    Helixi210 – 2123
    Beta strandi214 – 2174
    Helixi222 – 2265
    Helixi235 – 25218
    Beta strandi259 – 2624
    Helixi264 – 2696
    Helixi273 – 29321
    Helixi298 – 3014
    Helixi302 – 3043
    Beta strandi307 – 3115
    Helixi315 – 33723
    Helixi342 – 3454
    Beta strandi349 – 3535
    Beta strandi360 – 3623
    Helixi365 – 37915
    Beta strandi383 – 3864
    Turni390 – 3945
    Helixi399 – 41517
    Helixi418 – 4203
    Beta strandi421 – 4233
    Turni424 – 4274
    Helixi429 – 45123
    Helixi455 – 4617
    Helixi463 – 48119
    Beta strandi482 – 4843
    Turni487 – 4893
    Beta strandi490 – 4923
    Helixi508 – 52417
    Helixi527 – 54317
    Helixi548 – 55710
    Helixi562 – 57312
    Helixi586 – 5916
    Helixi595 – 61117
    Beta strandi616 – 6205
    Helixi629 – 64012
    Beta strandi644 – 6474
    Helixi654 – 66310
    Beta strandi667 – 6737
    Helixi678 – 69114
    Beta strandi697 – 7048
    Helixi707 – 7093
    Helixi710 – 7167
    Beta strandi720 – 7223
    Helixi728 – 74417

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2XIJX-ray1.95A12-750[»]
    2XIQX-ray1.95A/B12-750[»]
    3BICX-ray2.60A/B12-750[»]
    ProteinModelPortaliP22033.
    SMRiP22033. Positions 36-749.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP22033.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini614 – 746133B12-bindingPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the methylmalonyl-CoA mutase family.Curated
    Contains 1 B12-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG2185.
    HOGENOMiHOG000003917.
    HOVERGENiHBG006423.
    InParanoidiP22033.
    KOiK01847.
    OMAiMGGMMKA.
    OrthoDBiEOG78PV8G.
    PhylomeDBiP22033.
    TreeFamiTF313557.

    Family and domain databases

    Gene3Di3.20.20.240. 1 hit.
    3.40.50.280. 1 hit.
    InterProiIPR006159. Acid_CoA_mut_C.
    IPR016176. Cbl-dep_enz_cat.
    IPR014348. Cbl-dep_enz_cat-sub.
    IPR006158. Cobalamin-bd.
    IPR006099. MeMalonylCoA_mutase_a/b_cat.
    IPR006098. MMCoA_mutase_a_cat.
    [Graphical view]
    PfamiPF02310. B12-binding. 1 hit.
    PF01642. MM_CoA_mutase. 1 hit.
    [Graphical view]
    SUPFAMiSSF51703. SSF51703. 1 hit.
    SSF52242. SSF52242. 1 hit.
    TIGRFAMsiTIGR00640. acid_CoA_mut_C. 1 hit.
    TIGR00641. acid_CoA_mut_N. 1 hit.
    PROSITEiPS51332. B12_BINDING. 1 hit.
    PS00544. METMALONYL_COA_MUTASE. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P22033-1 [UniParc]FASTAAdd to Basket

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    MLRAKNQLFL LSPHYLRQVK ESSGSRLIQQ RLLHQQQPLH PEWAALAKKQ    50
    LKGKNPEDLI WHTPEGISIK PLYSKRDTMD LPEELPGVKP FTRGPYPTMY 100
    TFRPWTIRQY AGFSTVEESN KFYKDNIKAG QQGLSVAFDL ATHRGYDSDN 150
    PRVRGDVGMA GVAIDTVEDT KILFDGIPLE KMSVSMTMNG AVIPVLANFI 200
    VTGEEQGVPK EKLTGTIQND ILKEFMVRNT YIFPPEPSMK IIADIFEYTA 250
    KHMPKFNSIS ISGYHMQEAG ADAILELAYT LADGLEYSRT GLQAGLTIDE 300
    FAPRLSFFWG IGMNFYMEIA KMRAGRRLWA HLIEKMFQPK NSKSLLLRAH 350
    CQTSGWSLTE QDPYNNIVRT AIEAMAAVFG GTQSLHTNSF DEALGLPTVK 400
    SARIARNTQI IIQEESGIPK VADPWGGSYM MECLTNDVYD AALKLINEIE 450
    EMGGMAKAVA EGIPKLRIEE CAARRQARID SGSEVIVGVN KYQLEKEDAV 500
    EVLAIDNTSV RNRQIEKLKK IKSSRDQALA ERCLAALTEC AASGDGNILA 550
    LAVDASRARC TVGEITDALK KVFGEHKAND RMVSGAYRQE FGESKEITSA 600
    IKRVHKFMER EGRRPRLLVA KMGQDGHDRG AKVIATGFAD LGFDVDIGPL 650
    FQTPREVAQQ AVDADVHAVG ISTLAAGHKT LVPELIKELN SLGRPDILVM 700
    CGGVIPPQDY EFLFEVGVSN VFGPGTRIPK AAVQVLDDIE KCLEKKQQSV 750
    Length:750
    Mass (Da):83,134
    Last modified:January 11, 2011 - v4
    Checksum:iB5909729C08B562F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti153 – 1531V → L in AAA99226. (PubMed:1980486)Curated
    Sequence conflicti236 – 2361E → D in AAA99226. (PubMed:1980486)Curated
    Sequence conflicti274 – 2774ILEL → FWSW in AAA99226. (PubMed:1980486)Curated
    Sequence conflicti316 – 3161Y → H in AAA99226. (PubMed:1980486)Curated
    Sequence conflicti505 – 5051I → T in AAA99226. (PubMed:1980486)Curated
    Sequence conflicti516 – 5161E → G in AAA99226. (PubMed:1980486)Curated
    Sequence conflicti591 – 5911F → Y in AAA99226. (PubMed:1980486)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti69 – 691I → V.2 Publications
    Corresponds to variant rs115923556 [ dbSNP | Ensembl ].
    VAR_023472
    Natural varianti86 – 861P → L in MMAM; mut0. 1 Publication
    VAR_026592
    Natural varianti87 – 871G → E in MMAM; mut0. 1 Publication
    VAR_026593
    Natural varianti93 – 931R → H in MMAM; mut0. 2 Publications
    Corresponds to variant rs121918251 [ dbSNP | Ensembl ].
    VAR_004409
    Natural varianti94 – 941G → R in MMAM; mut0. 1 Publication
    VAR_026594
    Natural varianti94 – 941G → V in MMAM; mut- and mut0. 2 Publications
    VAR_022393
    Natural varianti95 – 951P → R in MMAM; mut0. 1 Publication
    VAR_026595
    Natural varianti105 – 1051W → R in MMAM; mut0. 2 Publications
    VAR_004410
    Natural varianti108 – 1081R → C in MMAM; mut0. 1 Publication
    Corresponds to variant rs121918257 [ dbSNP | Ensembl ].
    VAR_026596
    Natural varianti108 – 1081R → G in MMAM; mut-. 1 Publication
    VAR_026597
    Natural varianti108 – 1081R → H in MMAM; mut0. 2 Publications
    VAR_022394
    Natural varianti109 – 1091Q → R in MMAM; mut0. 1 Publication
    VAR_023473
    Natural varianti137 – 1371A → V in MMAM; mut0. 1 Publication
    VAR_022395
    Natural varianti145 – 1451G → S in MMAM; mut0. 1 Publication
    VAR_026598
    Natural varianti148 – 1481S → L in MMAM. 1 Publication
    VAR_022396
    Natural varianti156 – 1561D → N in MMAM; mut-. 1 Publication
    VAR_022397
    Natural varianti158 – 1581G → V in MMAM; mut0. 1 Publication
    VAR_022398
    Natural varianti174 – 1741F → S in MMAM; mut0. 2 Publications
    VAR_022399
    Natural varianti186 – 1861M → V in MMAM; mut-. 1 Publication
    VAR_026599
    Natural varianti189 – 1891N → K in MMAM; mut-. 1 Publication
    VAR_026600
    Natural varianti191 – 1911A → E in MMAM; mut- and mut0. 4 Publications
    VAR_004411
    Natural varianti197 – 1971A → E in MMAM; mut0. 1 Publication
    VAR_026601
    Natural varianti203 – 2031G → R in MMAM; mut0. 3 Publications
    VAR_022400
    Natural varianti215 – 2151G → C in MMAM; mut- and mut0. 1 Publication
    VAR_026602
    Natural varianti215 – 2151G → S in MMAM; mut0. 2 Publications
    VAR_022401
    Natural varianti218 – 2181Q → H in MMAM; mut0. 2 Publications
    VAR_022402
    Natural varianti219 – 2191N → Y in MMAM; mut0. 4 Publications
    VAR_022403
    Natural varianti228 – 2281R → Q in MMAM; mut0. 2 Publications
    VAR_004412
    Natural varianti230 – 2301T → I in MMAM; mut-. 1 Publication
    VAR_026603
    Natural varianti231 – 2311Y → N in MMAM; mut-. 2 Publications
    VAR_004413
    Natural varianti262 – 2621S → N in MMAM; mut0. 2 Publications
    VAR_022404
    Natural varianti265 – 2651H → Y in MMAM; mut-. 1 Publication
    VAR_026604
    Natural varianti281 – 2811L → S in MMAM; mut0. 1 Publication
    VAR_026605
    Natural varianti291 – 2911G → E in MMAM; mut0. 1 Publication
    VAR_026606
    Natural varianti293 – 2931Q → P in MMAM; mut0. 1 Publication
    VAR_022405
    Natural varianti305 – 3051L → S in MMAM; mut0. 1 Publication
    VAR_026607
    Natural varianti306 – 3061S → F in MMAM; mut0. 1 Publication
    VAR_026608
    Natural varianti312 – 3121G → V in MMAM; mut0. 2 Publications
    VAR_004414
    Natural varianti316 – 3161Y → C in MMAM; mut-. 1 Publication
    VAR_026609
    Natural varianti324 – 3241A → T in MMAM; mut-. 2 Publications
    VAR_023474
    Natural varianti328 – 3281L → F in MMAM; mut0. 1 Publication
    VAR_022406
    Natural varianti328 – 3281L → P in MMAM; mut0. 1 Publication
    VAR_023475
    Natural varianti346 – 3461Missing in MMAM; mut0. 2 Publications
    VAR_004415
    Natural varianti347 – 3471L → R in MMAM; mut0. 1 Publication
    VAR_026610
    Natural varianti350 – 3501H → Y in MMAM; mut0. 1 Publication
    VAR_026611
    Natural varianti368 – 3681V → D in MMAM.
    VAR_004416
    Natural varianti369 – 3691R → C in MMAM; mut0. 1 Publication
    VAR_026612
    Natural varianti369 – 3691R → H in MMAM; mut- and mut0. 2 Publications
    VAR_004417
    Natural varianti370 – 3701T → P in MMAM; mut0. 1 Publication
    VAR_026613
    Natural varianti377 – 3771A → E in MMAM; mut0. 2 Publications
    VAR_004418
    Natural varianti383 – 3831Q → H in MMAM; mut0. 1 Publication
    VAR_026614
    Natural varianti383 – 3831Q → P in MMAM; mut0. 1 Publication
    VAR_026615
    Natural varianti386 – 3861H → N in MMAM; mut0. 1 Publication
    VAR_026616
    Natural varianti388 – 3881N → H in MMAM; mut0. 1 Publication
    VAR_026617
    Natural varianti389 – 3891Missing in MMAM; mut0. 1 Publication
    VAR_026618
    Natural varianti412 – 4121Missing in MMAM; mut0. 1 Publication
    VAR_026619
    Natural varianti426 – 4261G → R in MMAM; mut-. 1 Publication
    VAR_026620
    Natural varianti427 – 4271G → D in MMAM; mut0. 1 Publication
    VAR_026621
    Natural varianti499 – 4991A → T.4 Publications
    Corresponds to variant rs2229385 [ dbSNP | Ensembl ].
    VAR_022407
    Natural varianti518 – 5181L → P in MMAM; mut0. 1 Publication
    VAR_026622
    Natural varianti532 – 5321R → H.4 Publications
    Corresponds to variant rs1141321 [ dbSNP | Ensembl ].
    VAR_004419
    Natural varianti535 – 5351A → P in MMAM; mut0. 1 Publication
    VAR_022408
    Natural varianti560 – 5601C → Y in MMAM; mut0. 1 Publication
    VAR_026623
    Natural varianti566 – 5661T → R in MMAM; mut0. 1 Publication
    VAR_026624
    Natural varianti573 – 5731F → S in MMAM; mut-. 1 Publication
    VAR_026625
    Natural varianti587 – 5871Y → C in MMAM; mut-. 1 Publication
    VAR_022409
    Natural varianti598 – 5981T → A.
    Corresponds to variant rs9473556 [ dbSNP | Ensembl ].
    VAR_030495
    Natural varianti615 – 6151P → R in MMAM; mut0. 1 Publication
    VAR_026626
    Natural varianti615 – 6151P → T in MMAM; mut0. 1 Publication
    VAR_022410
    Natural varianti616 – 6161R → C in MMAM; mut0. 2 Publications
    VAR_023476
    Natural varianti617 – 6171L → R in MMAM. 1 Publication
    VAR_023477
    Natural varianti621 – 6211K → N in MMAM; mut0. 1 Publication
    VAR_022411
    Natural varianti623 – 6231G → R in MMAM; mut0. 4 Publications
    VAR_004420
    Natural varianti624 – 6241Q → R in MMAM. 1 Publication
    VAR_022412
    Natural varianti626 – 6261G → C in MMAM; mut-. 1 Publication
    VAR_004421
    Natural varianti627 – 6271H → R in MMAM; mut0. 2 Publications
    VAR_022413
    Natural varianti630 – 6301G → E in MMAM; mut0. 2 Publications
    VAR_004422
    Natural varianti633 – 6331V → G in MMAM; mut-. 2 Publications
    VAR_004423
    Natural varianti637 – 6371G → E in MMAM; mut-. 1 Publication
    VAR_022414
    Natural varianti637 – 6371G → R in MMAM; mut0. 1 Publication
    VAR_026627
    Natural varianti638 – 6381F → I in MMAM; mut0. 1 Publication
    VAR_022415
    Natural varianti640 – 6401D → Y in MMAM; mut0. 1 Publication
    VAR_022416
    Natural varianti642 – 6421G → R in MMAM; mut-. 2 Publications
    VAR_022417
    Natural varianti648 – 6481G → D in MMAM; mut-. 1 Publication
    VAR_004424
    Natural varianti669 – 6691V → E in MMAM; mut0.
    VAR_004425
    Natural varianti671 – 6711I → V.11 Publications
    Corresponds to variant rs8589 [ dbSNP | Ensembl ].
    VAR_004426
    Natural varianti678 – 6781H → R in MMAM; mut-. 2 Publications
    VAR_004427
    Natural varianti684 – 6841E → EL in MMAM; mut-. 1 Publication
    VAR_004428
    Natural varianti685 – 6851L → R in MMAM; mut-. 2 Publications
    VAR_004429
    Natural varianti694 – 6941R → W in MMAM; mut- and mut0. 4 Publications
    VAR_004430
    Natural varianti700 – 7001M → K in MMAM; mut-. 2 Publications
    VAR_022418
    Natural varianti703 – 7031G → R in MMAM; mut0. 2 Publications
    VAR_004431
    Natural varianti717 – 7171G → V in MMAM; mut-; interfers with the binding of the cofactor to the apoenzyme. 5 Publications
    VAR_004432

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M65131 mRNA. Translation: AAA59569.1.
    M37510
    , M37499, M37500, M37501, M37503, M37504, M37505, M37506, M37507, M37508, M37509 Genomic DNA. Translation: AAA99226.1.
    AK292568 mRNA. Translation: BAF85257.1.
    BT007434 mRNA. Translation: AAP36102.1.
    AL590668 Genomic DNA. Translation: CAI14311.1.
    BC016282 mRNA. Translation: AAH16282.1.
    CCDSiCCDS4924.1.
    PIRiA59145.
    RefSeqiNP_000246.2. NM_000255.3.
    XP_005249200.1. XM_005249143.2.
    UniGeneiHs.485527.

    Genome annotation databases

    EnsembliENST00000274813; ENSP00000274813; ENSG00000146085.
    GeneIDi4594.
    KEGGihsa:4594.
    UCSCiuc003ozg.4. human.

    Polymorphism databases

    DMDMi317373575.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    Methylmalonyl coenzyme A mutase entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M65131 mRNA. Translation: AAA59569.1 .
    M37510
    , M37499 , M37500 , M37501 , M37503 , M37504 , M37505 , M37506 , M37507 , M37508 , M37509 Genomic DNA. Translation: AAA99226.1 .
    AK292568 mRNA. Translation: BAF85257.1 .
    BT007434 mRNA. Translation: AAP36102.1 .
    AL590668 Genomic DNA. Translation: CAI14311.1 .
    BC016282 mRNA. Translation: AAH16282.1 .
    CCDSi CCDS4924.1.
    PIRi A59145.
    RefSeqi NP_000246.2. NM_000255.3.
    XP_005249200.1. XM_005249143.2.
    UniGenei Hs.485527.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2XIJ X-ray 1.95 A 12-750 [» ]
    2XIQ X-ray 1.95 A/B 12-750 [» ]
    3BIC X-ray 2.60 A/B 12-750 [» ]
    ProteinModelPortali P22033.
    SMRi P22033. Positions 36-749.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110680. 4 interactions.
    IntActi P22033. 2 interactions.