Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



MUT Gene

protein-coding   GIFtS: 67
GCID: GC06M049445

Methylmalonyl CoA Mutase

(Previous name: methylmalonyl Coenzyme A mutase)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Methylmalonyl CoA Mutase1 2
MCM2 3 5
Methylmalonyl Coenzyme A Mutase1 2
Methylmalonyl-CoA Isomerase2 3
EC 5.4.99.23 8
Methylmalonyl-CoA Mutase, Mitochondrial2

External Ids:    HGNC: 75261   Entrez Gene: 45942   Ensembl: ENSG000001460857   OMIM: 6090585   UniProtKB: P220333   

Export aliases for MUT gene to outside databases

Previous GC identifers: GC06M049401 GC06M049506 GC06M049126


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for MUT Gene:
This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is
a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in
other species this enzyme may have different functions. Mutations in this gene may lead to various types of
methylmalonic aciduria. (provided by RefSeq, Jul 2008)

GeneCards Summary for MUT Gene:
MUT (methylmalonyl CoA mutase) is a protein-coding gene. Diseases associated with MUT include mut-related methylmalonic acidemia, and methylmalonyl-coenzyme a mutase deficiency. GO annotations related to this gene include methylmalonyl-CoA mutase activity and cobalamin binding.

UniProtKB/Swiss-Prot: MUTA_HUMAN, P22033
Function: 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

Gene Wiki entry for MUT (Methylmalonyl-CoA mutase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000006.12  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MUT gene promoter:
         SRF   SRF (504 AA)   CUTL1   E47   MEF-2A   FAC1   Cart-1   Hand1   aMEF-2   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMUT promoter sequence
   Search Chromatin IP Primers for MUT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MUT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p12.3   Ensembl cytogenetic band:  6p12.3   HGNC cytogenetic band: 6p21

MUT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MUT gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M049445:  view genomic region     (about GC identifiers)

Start:
49,398,073 bp from pter      End:
49,431,041 bp from pter
Size:
32,969 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: MUTA_HUMAN, P22033 (See protein sequence)
Recommended Name: Methylmalonyl-CoA mutase, mitochondrial precursor  
Size: 750 amino acids; 83134 Da
Cofactor: Adenosylcobalamin
Subunit: Homodimer
3 PDB 3D structures from and Proteopedia for MUT:
2XIJ (3D)        2XIQ (3D)        3BIC (3D)    
Secondary accessions: A8K953 Q5SYZ3 Q96B11 Q9UD64

Explore the universe of human proteins at neXtProt for MUT: NX_P22033

Explore proteomics data for MUT at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MUT (P22033) (see all 34)
     TQSLHTN  WHTPEGI  LFLLSPH  MEIAKMRA 


    See MUT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000246.2  
    ENSEMBL proteins: 
     ENSP00000274813  
    Reactome Protein details: P22033

    MUT Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for MUT
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MUT
    GenScript Custom Purified and Recombinant Proteins Services for MUT
    Novus Biologicals MUT Proteins
    Novus Biologicals MUT Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MUT

    MUT Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for MUT
    OriGene Custom Antibody Services for MUT
    Novus Biologicals MUT Antibodies
    Abcam antibodies for MUT
    Cloud-Clone Corp. Antibodies for MUT
    Search ThermoFisher Antibodies for MUT
    LSBio Antibodies in human, mouse, rat for MUT

    MUT Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MUT
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MUT
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MUT
    Cloud-Clone Corp. CLIAs for MUT


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    Selected InterPro protein domains (see all 6):
     IPR006098 MMCoA_mutase_a_cat
     IPR014348 Cbl-dep_enz_cat-sub
     IPR006099 MeMalonylCoA_mutase_a/b_cat
     IPR016176 Cbl-dep_enz_cat
     IPR006159 Acid_CoA_mut_C

    Graphical View of Domain Structure for InterPro Entry P22033

    ProtoNet protein and cluster: P22033

    2 Blocks protein domains:
    IPB006099 Methylmalonyl-CoA mutase
    IPB006158 Coenzyme B12-binding


    UniProtKB/Swiss-Prot: MUTA_HUMAN, P22033
    Similarity: Belongs to the methylmalonyl-CoA mutase family
    Similarity: Contains 1 B12-binding domain


    MUT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MUTA_HUMAN, P22033
    Function: 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 activity: (R)-methylmalonyl-CoA = succinyl-CoA

         Genatlas biochemistry entry for MUT:
    methylmalonyl-CoA mutase

         Enzyme Number (IUBMB): EC 5.4.99.21 2

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004494methylmalonyl-CoA mutase activity IEA--
    GO:0016853isomerase activity ----
    GO:0016866intramolecular transferase activity ----
    GO:0031419cobalamin binding IEA--
         
    MUT for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for MUT:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras  Upregulation of Wnt/beta-caten 

         14 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mut):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  endocrine/exocrine gland 
     growth/size/body  homeostasis/metabolism  immune system  liver/biliary system  mortality/aging 
     nervous system  other  renal/urinary system  respiratory system 

    MUT for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MUT: Muttm1Pai Muttm1Cpv

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MUT
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MUT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MUT
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MUT

    miRNA
    Products:
        
    miRTarBase miRNAs that target MUT:
    hsa-mir-615-3p (MIRT039809), hsa-mir-155-5p (MIRT020551)

    Block miRNA regulation of human, mouse, rat MUT using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MUT (see all 16):
    hsa-miR-548w hsa-miR-548j hsa-miR-320a hsa-miR-559 hsa-miR-548i hsa-miR-548h hsa-miR-548c-5p hsa-miR-548k
    SwitchGear 3'UTR luciferase reporter plasmidMUT 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MUT
    Predesigned siRNA for gene silencing in human, mouse, rat MUT

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MUT

    Clone
    Products:
         
    OriGene clones in human, mouse for MUT (see all 6)
    OriGene ORF clones in mouse, rat for MUT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MUT (NM_000255)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MUT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MUT

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MUT
    Browse ESI BIO Cell Lines and PureStem Progenitors for MUT 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUT


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    MUTA_HUMAN, P22033: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus2
    endoplasmic reticulum1
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS2567699
    GO:0005759mitochondrial matrix TAS--

    MUT for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for MUT About   (see all 8)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    Mitochondrial Fatty Acid Beta-Oxidation0.00
    Propionyl-CoA catabolism0.00
    methylmalonyl pathway0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    4Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    Propanoate metabolism0.31
    5superpathway of methionine degradation
    superpathway of methionine degradation
    2-oxobutanoate degradation I0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for MUT
        methylmalonyl pathway
    superpathway of methionine degradation
    2-oxobutanoate degradation I

    4 Reactome Pathways for MUT
        Propionyl-CoA catabolism
    Defective MMAA causes methylmalonic aciduria type cblA
    Cobalamin (Cbl, vitamin B12) transport and metabolism
    Defective MUT causes methylmalonic aciduria mut type


    5 Kegg Pathways  (Kegg details for MUT):
        Valine, leucine and isoleucine degradation
    Glyoxylate and dicarboxylate metabolism
    Propanoate metabolism
    Metabolic pathways
    Carbon metabolism


    MUT for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MUT: 
              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism II in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MUT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for MUT (P220332, 3 ENSP000002748134) via UniProtKB, MINT, STRING, and/or I2D (see all 258)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    MMAAQ8IVH43, ENSP000002813174I2D: score=1 STRING: ENSP00000281317
    SUCLA2Q9P2R72, ENSP000003679234MINT-8079030 STRING: ENSP00000367923
    ATG101Q9BSB43I2D: score=1 
    PCBD1P614573I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006635fatty acid beta-oxidation TAS--
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0008152metabolic process ----
    GO:0009235cobalamin metabolic process TAS--

    MUT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MUT (MUTA)

    6 HMDB Compounds for MUT    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosylcobalamin(5'-Deoxy-5'-adenosyl)cobamide coenzyme (see all 15)13870-90-1--
    Cobalamin5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole (see all 15)13408-78-1--
    CobaltCo (see all 6)7440-48-4--
    CyanocobalaminDimethylbenzimidazoylcobamide (see all 92)68-19-9--
    R-Methylmalonyl-CoA 73173-92-9--
    Succinyl-CoACoenzyme A S-(hydrogen succinate) (see all 24)604-98-8--

    2 DrugBank Compounds for MUT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    HydroxocobalaminHydroxomin (see all 2)13422-51-0targetcofactor36882 7599160 11955068 11752352 18565 8741039
    CyanocobalaminCyanocob(III)alamin (see all 3)68-19-9targetcofactor19904199 17011224 16281286 16813422 16305240

    Selected Novoseek inferred chemical compound relationships for MUT gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenosylcobalamin 94.5 30 10377254 (2), 9285782 (2), 9554742 (1), 17410422 (1) (see all 18)
    l-methylmalonyl-coa 91.1 7 1979711 (2), 1970332 (1), 9285782 (1), 16823967 (1)
    cobalamin 79.6 16 10377254 (2), 9242908 (1), 16150626 (1), 17075691 (1) (see all 10)
    methylmalonic acid 79.4 3 8929440 (2), 8017644 (1)
    methylcobalamin 64.9 3 10377254 (1), 16150626 (1)
    vitamin b12 64.5 6 9554742 (1), 18375549 (1), 16150626 (1), 20174775 (1) (see all 5)
    propionate 60.2 10 1363155 (4), 10518277 (1), 8929440 (1), 19699272 (1)
    methionine 41.9 7 9242908 (1), 10377254 (1), 16150626 (1), 20174775 (1) (see all 7)
    carnitine 38.3 1 1363155 (1)
    cobalt 35.8 2 9242908 (2)



    MUT for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for MUT gene: 
    NM_000255.3  

    Unigene Cluster for MUT:

    Methylmalonyl CoA mutase
    Hs.485527  [show with all ESTs]
    Unigene Representative Sequence: NM_000255
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000274813(uc003ozg.4)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MUT using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MUT (see all 16):
    hsa-miR-548w hsa-miR-548j hsa-miR-320a hsa-miR-559 hsa-miR-548i hsa-miR-548h hsa-miR-548c-5p hsa-miR-548k
    SwitchGear 3'UTR luciferase reporter plasmidMUT 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MUT
    Predesigned siRNA for gene silencing in human, mouse, rat MUT
    Clone
    Products:
         
    OriGene clones in human, mouse for MUT (see all 6)
    OriGene ORF clones in mouse, rat for MUT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MUT (NM_000255)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MUT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MUT
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MUT
    OriGene qSTAR qPCR primer pairs in human, mouse for MUT
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MUT
      QuantiTect SYBR Green Assays in human, mouse, rat MUT
      QuantiFast Probe-based Assays in human, mouse, rat MUT

    Additional mRNA sequence: 

    AK292568.1 AK312611.1 BC016282.1 BT007434.1 M65131.1 

    7 DOTS entries:

    DT.452288  DT.95275002  DT.102828174  DT.92440605  DT.92440604  DT.40309424  DT.100814317 

    Selected AceView cDNA sequences (see all 286):

    AV651446 BF196499 CB157929 AA761038 CA444307 AI274590 AI433712 AU116803 
    BU189799 AV651416 AI654083 BU615544 AV654874 AI022429 BU193611 AU143086 
    AV651473 BU609220 BI766242 BI757165 AL524144 BU616598 F04009 BM854972 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MUT    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                                                        -                                                   
    SP2:                                                                                                            
    SP3:                    -                                                                                       
    SP4:                    -                                                                                       


    ECgene alternative splicing isoforms for MUT

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    MUT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGATGTATT
    MUT Expression
    About this image


    MUT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    MUT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MUT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.485527
        Pathway & Disease-focused RT2 Profiler PCR Arrays including MUT: 
              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism II in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MUT
    OriGene qSTAR qPCR primer pairs in human, mouse for MUT
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MUT
    QuantiTect SYBR Green Assays in human, mouse, rat MUT
    QuantiFast Probe-based Assays in human, mouse, rat MUT
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUT

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for MUT gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mut1 , 5 methylmalonyl-Coenzyme A mutase1, 5 88.99(n)1
    95.05(a)1
      17 (19.55 cM)5
    178501  NM_008650.31  NP_032676.21 
     409346855 
    chicken
    (Gallus gallus)
    Aves MUT1 methylmalonyl CoA mutase 79.46(n)
    87.57(a)
      422049  XM_004935917.1  XP_004935974.1 
    lizard
    (Anolis carolinensis)
    Reptilia MUT6
    methylmalonyl CoA mutase
    87(a)
    1 ↔ 1
    1(139474631-139500452)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.48912 Xenopus laevis transcribed sequence with moderate similarity more 78.09(n)    AW644910.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.70552 Transcribed sequence with moderate similarity to protein more 77.18(n)    CK027470.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK1058.13
    mmcm-11
    Methylmalonyl-coA mutase3
    mmcm-11
    69(a)3
    66.48(n)1
    70.92(a)1
      III(3975202-3979463)3
    1755031  NM_065385.61  NP_497786.21 


    ENSEMBL Gene Tree for MUT (if available)
    TreeFam Gene Tree for MUT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for MUT (see all 749)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219182571,2,,4
    CMethylmalonic aciduria type mut (MMAM)4 pathogenic149340915(-) CCATCC/TGCCAG 2 R C mis10--------
    rs1219182511,2,,4
    CMethylmalonic aciduria type mut (MMAM)4 pathogenic149340959(-) CACACA/GTGGAC 2 H R mis10--------
    VAR_0266104
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266102 L R mis40--------
    VAR_0266164
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266162 H N mis40--------
    VAR_0224124
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224122 Q R mis40--------
    VAR_0224044
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224042 S N mis40--------
    VAR_0044294
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044292 L R mis40--------
    VAR_0266014
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266012 A E mis40--------
    VAR_0224114
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224112 K N mis40--------
    VAR_0044224
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044222 G E mis40--------
    VAR_0266214
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266212 G D mis40--------
    VAR_0044164
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044162 V D mis40--------
    VAR_0224134
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224132 H R mis40--------
    VAR_0224004
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224002 G R mis40--------
    VAR_0266054
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266052 L S mis40--------
    VAR_0044184
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044182 A E mis40--------
    VAR_0234734
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0234732 Q R mis40--------
    VAR_0224094
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224092 Y C mis40--------
    VAR_0044214
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044212 G C mis40--------
    VAR_0044274
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044272 H R mis40--------
    VAR_0044174
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044172 R H mis40--------
    VAR_0044244
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044242 G D mis40--------
    VAR_0266244
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266242 T R mis40--------
    VAR_0265954
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0265952 P R mis40--------
    VAR_0234754
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0234752 L P mis40--------
    VAR_0234774
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0234772 L R mis40--------
    VAR_0266274
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266272 G R mis40--------
    VAR_0266174
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266172 N H mis40--------
    VAR_0223994
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0223992 F S mis40--------
    VAR_0266064
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266062 G E mis40--------
    VAR_0044324
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044322 G V mis40--------
    VAR_0044314
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044312 G R mis40--------
    VAR_0044254
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044252 V E mis40--------
    VAR_0234744
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0234742 A T mis40--------
    VAR_0223964
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0223962 S L mis40--------
    VAR_0044134
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044132 Y N mis40--------
    VAR_0266124
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266122 R C mis40--------
    VAR_0044144
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044142 G V mis40--------
    VAR_0223974
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0223972 D N mis40--------
    VAR_0266094
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266092 Y C mis40--------
    VAR_0044114
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044112 A E mis40--------
    VAR_0223984
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0223982 G V mis40--------
    VAR_0266234
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266232 C Y mis40--------
    VAR_0266084
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266082 S F mis40--------
    VAR_0224184
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224182 M K mis40--------
    VAR_0265944
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0265942 G R mis40--------
    VAR_0265984
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0265982 G S mis40--------
    VAR_0223954
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0223952 A V mis40--------
    VAR_0224064
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224062 L F mis40--------
    VAR_0266034
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266032 T I mis40--------
    VAR_0266154
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266152 Q P mis40--------
    VAR_0044124
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044122 R Q mis40--------
    VAR_0224014
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224012 G S mis40--------
    VAR_0265974
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0265972 R G mis40--------
    VAR_0224104
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224102 P T mis40--------
    VAR_0266004
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266002 N K mis40--------
    VAR_0044234
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044232 V G mis40--------
    VAR_0266264
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266262 P R mis40--------
    VAR_0266254
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266252 F S mis40--------
    VAR_0234764
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0234762 R C mis40--------
    VAR_0265934
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0265932 G E mis40--------
    VAR_0265994
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0265992 M V mis40--------
    VAR_0266044
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266042 H Y mis40--------
    VAR_0266074
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266072 L S mis40--------
    VAR_0224154
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224152 F I mis40--------
    VAR_0044104
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044102 W R mis40--------
    VAR_0224054
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224052 Q P mis40--------
    VAR_0266134
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266132 T P mis40--------
    VAR_0224144
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224142 G E mis40--------
    VAR_0223944
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0223942 R H mis40--------
    VAR_0265924
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0265922 P L mis40--------
    VAR_0044204
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044202 G R mis40--------
    VAR_0266144
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266142 Q H mis40--------
    VAR_0223934
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0223932 G V mis40--------
    VAR_0224024
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224022 Q H mis40--------
    VAR_0224174
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224172 G R mis40--------
    VAR_0266024
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266022 G C mis40--------
    VAR_0266224
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266222 L P mis40--------
    VAR_0266114
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266112 H Y mis40--------
    VAR_0224164
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224162 D Y mis40--------
    VAR_0044304
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044302 R W mis40--------
    VAR_0266204
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266202 G R mis40--------
    VAR_0224034
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224032 N Y mis40--------
    VAR_0224084
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224082 A P mis40--------
    rs1219182521,2
    Cpathogenic149313599(-) AGTTGG/TTGTTT 2 G V mis11Minor allele frequency- T:0.00NA 4548
    rs1219182541,2
    Cpathogenic149322065(-) AAATGA/GGACAA 2 R G mis10--------
    rs1219182561,2
    Cpathogenic149339559(-) TCCAAA/TATGAT 2 N Y mis11Minor allele frequency- T:0.00EU 1317
    rs106301771,2
    C--49134743(+) ACCTC-/CTTGAGGA 1 -- cds10--------
    rs357561271,2
    C--49134745(+) CCTCG-/CTTAGGAC 1 -- cds10--------
    rs1830303041,2
    --49311869(+) TTCTCA/GATTTA 1 -- ds50010--------
    rs3753685911,2
    C--49312017(+) CACAA-/ACACACA 1 -- ds50010--------
    rs360678481,2
    C--49312018(+) ACACA-/ACCACAC 1 -- ds50010--------
    rs1391620191,2
    C--49312018(+) CACAA-/ACAC  
            
    ACACA
    1 -- ds50010--------
    rs93817841,2
    C,F,A,H--49312170(+) CAGCAC/TGCAAC 1 -- ut3121Minor allele frequency- T:0.36NS EA NA 2478
    rs1462572681,2
    --49312404(+) TACTTC/TCCAAA 1 -- ut310--------
    rs1392835451,2
    C--49312671(+) ATTTAC/TGTTTA 1 -- ut310--------
    rs1862058031,2
    --49312816(+) AAGGAA/GTGTTC 1 -- ut310--------
    rs117570981,2
    C,F,H--49312917(+) AGAAAT/CATACT 1 -- ut318Minor allele frequency- C:0.10NS EA NA WA 752
    rs1901885281,2
    C--49312922(+) TATACC/G/TGTCAA 2 -- ut310--------
    rs1113227121,2
    F--49312939(+) CATATC/TCCAAC 1 -- ut311Minor allele frequency- T:0.50CSA 2
    rs748541321,2
    C--49312952(+) GCTGTG/TCTTGA 1 -- ut310--------
    rs1879872431,2
    --49312968(+) ATACTC/TCTTTT 1 -- ut310--------
    rs1441684251,2
    --49313216(+) CATCAC/TCATGA 1 -- ut310--------
    rs1925528051,2
    --49313218(+) TCACCA/GTGATT 1 -- ut310--------
    rs1827266811,2
    --49313219(+) CACCAC/TGATTT 1 -- ut310--------
    rs1877470981,2
    --49313240(+) TACCAG/TTGTCC 1 -- ut310--------
    rs1926057761,2
    --49313370(+) TATTTC/TAAAGT 1 -- ut310--------
    rs1130259871,2
    C--49313395(+) AAGTAC/TAAATC 1 -- ut311Minor allele frequency- T:0.50CSA 2
    rs1995210801,2
    C--49313445(+) TCTTTG/CATCAT 1 -- ut311Minor allele frequency- C:0.00EU 863
    rs1999336411,2
    C--49313462(+) AATAAC/TATTTT 1 -- ut310--------
    rs143411,2
    C--49313466(-) GTCTAA/GAATAT 1 -- ut311Minor allele frequency- G:0.00MN 184
    rs2019632421,2
    C--49313553(+) TGAACA/GGCAGC 2 A syn10--------
    rs1887968211,2
    C--49313612(+) AAACAG/TAAATT 2 M L mis10--------
    rs1505800871,2
    C--49313651(+) TTAATA/TAGAGC 1 -- int10--------
    rs1392655031,2
    C--49313658(+) GAGCCA/TCTATT 1 -- int10--------
    rs1921774151,2
    --49313771(+) TTCCTC/TGATTG 1 -- int10--------
    rs1499712301,2
    C--49313842(+) CACTCC/TGCCCA 1 -- int10--------
    rs93673551,2
    C,F,A,H--49314039(+) AGTTAG/ATGAAT 1 -- int121Minor allele frequency- A:0.10NS EA NA 2644
    rs1847018651,2
    --49314052(+) TGGCAC/GTTTGA 1 -- int10--------
    rs1896273111,2
    C--49314104(+) ATTTTG/TTTTTT 1 -- int10--------
    rs795272311,2
    C,F--49314197(+) TTGCCG/CAGACT 1 -- int13Minor allele frequency- C:0.33NA WA 6
    rs93673561,2
    C,F,A,H--49314277(+) AGCCTC/TCCAAG 1 -- int14Minor allele frequency- T:0.29NA WA CSA 7
    rs93817851,2
    C,F,A,H--49314291(+) CTGTGA/GCTACA 1 -- int15Minor allele frequency- G:0.33NA WA CSA 9
    rs624119291,2
    C,F--49314380(+) CAATCC/TCCTGA 1 -- int12Minor allele frequency- T:0.50NA WA 4
    rs1417321931,2
    --49314405(+) CACCTC/TGGCCT 1 -- int10--------
    rs768215111,2
    C,F--49314458(+) CTTTTT/CAGTTT 1 -- int11Minor allele frequency- C:0.09WA 118
    rs1808664521,2
    --49314534(+) TGTTAC/TAACAT 1 -- int10--------
    rs1379616601,2
    C--49314714(+) ATGCT-/AATTAC 1 -- int10--------
    rs1861522701,2
    --49314838(+) AAATTC/TTGAGA 1 -- int10--------
    rs94634801,2
    C,F,A,H--49314849(+) GTAGAG/TATCAT 1 -- int111Minor allele frequency- T:0.29NS EA NA WA CSA 783
    rs1148986521,2
    C--49314866(+) TCTGTT/CTCCCC 1 -- int11Minor allele frequency- C:0.01NA 120
    rs94634811,2
    F--49315182(+) TTTGTG/TAGGGG 1 -- int10--------
    rs791140161,2
    C,F--49315235(+) TTATCT/AGTTAG 1 -- int11Minor allele frequency- A:0.09WA 118
    rs1820323131,2
    --49315377(+) GGCGAA/CTGCTG 1 -- int10--------
    rs1172580231,2
    F--49315426(+) GATGAG/AGAGAG 1 -- int11Minor allele frequency- A:0.01EA 120
    rs796667961,2
    C,F--49315553(+) TTTAAT/CTGAAT 1 -- int12Minor allele frequency- C:0.04NA EA 240
    rs1438257941,2
    --49315574(+) TTTTAC/TATATT 1 -- int10--------
    rs1511081871,2
    --49315630(+) AATTAC/TATAAT 1 -- int10--------
    rs1864891641,2
    --49315698(+) TTCATA/GGGAAA 1 -- int10--------
    rs1407200091,2
    C--49315711(+) TCACAC/TGGCAA 1 -- int10--------
    rs796420221,2
    C--49315832(+) CTCAAC/GATGAA 1 -- int10--------
    rs1905315341,2
    --49315855(+) TGTTTC/TCTACT 1 -- int10--------
    rs1116960841,2
    F--49315889(+) TTTTAC/ATATCA 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs765735801,2
    F--49315908(+) TATCAC/AAGACT 1 -- int11Minor allele frequency- A:0.01WA 118
    rs1385272151,2
    --49315926(+) TGCAAC/TGCTGA 1 -- int10--------
    rs1416708361,2
    C--49315966(+) AAGAAC/TAACTA 1 -- int10--------
    rs1834681671,2
    --49316277(+) TGGGGA/CCTTTG 1 -- int10--------
    rs1864909041,2
    --49316311(+) ACTTAC/TGACAG 1 -- int10--------
    rs122146091,2
    C,F--49316373(+) GAAAAT/CCTTGA 1 -- int13Minor allele frequency- C:0.11WA NA EA 358
    rs1453320971,2
    --49316622(+) ATAGGA/GTATTT 1 -- int10--------
    rs1380437161,2
    --49316637(+) CTCCCA/GAAATA 1 -- int10--------
    rs1913695761,2
    --49316681(+) GGGTTG/TTATAG 1 -- int10--------
    rs1148366591,2
    C,F--49316692(+) GACCAT/CGTAAA 1 -- int11Minor allele frequency- C:0.03WA 118
    rs1827316711,2
    --49316771(+) CCTTCG/TAAATA 1 -- int10--------
    rs1867662591,2
    --49316952(+) TGAAGA/GTAAAC 1 -- int10--------
    rs1495029801,2
    --49317162(+) CCACAA/GATAAG 1 -- int10--------
    rs2009617311,2
    C--49317197(+) ACAGTA/GCTAGA 1 -- int11Minor allele frequency- G:0.00EU 1117
    rs1477153361,2
    C--49317321(+) ACCAGC/TAGCGA 2 T A mis11Minor allele frequency- T:0.00NA 4550
    rs85891,2,,4
    C,F,H--49317336(-) TGGGCA/GTAAGC 2 I V mis129Minor allele frequency- T:0.10MN NS EA NA WA CSA EU 9072
    rs1441467281,2
    C,F--49317355(+) ACATCC/TGCATC 2 A syn12Minor allele frequency- T:0.00NA EU 5873
    rs1379582171,2
    C,F--49317356(+) CATCCG/ACATCC 2 /A /V mis12Minor allele frequency- A:0.00NA EU 5869
    rs1913347031,2
    --49317675(+) AATACC/TTGCAT 1 -- int10--------
    rs1486799201,2
    --49317676(+) ATACCC/TGCATC 1 -- int10--------
    rs1166228541,2
    F--49317708(+) TACAAA/TAAAAC 1 -- int11Minor allele frequency- T:0.02NA 120
    rs1831369641,2
    --49317712(+) AAAAAA/CCATTA 1 -- int10--------
    rs1447988131,2
    C--49317805(+) ATCAC-/TGAT  
            
    TGTTA
    1 -- int10--------
    rs1877752801,2
    C--49317888(+) CAAAAA/GATAAC 1 -- int10--------
    rs1413390421,2
    C--49318011(+) CAGAAA/GTACCT 1 -- int10--------
    rs1506269221,2
    C--49318044(+) CGTACA/GTATAC 1 -- int10--------
    rs1406892751,2
    --49318144(+) GAGGCA/GGGTGG 1 -- int10--------
    rs1930340411,2
    --49318160(+) TTGAGA/GTCATG 1 -- int10--------
    rs1853403751,2
    --49318170(+) GAGTTC/TGAGAC 1 -- int10--------
    rs1447541631,2
    C--49318311(+) AGGTTG/TTAGTG 1 -- int10--------
    rs1418076991,2
    --49318371(+) TGTTT-/CAAAAA 1 -- int10--------
    rs351515101,2
    C--49318372(+) GTTTC-/AAAAAA 1 -- int10--------
    rs1149546711,2
    F--49318399(+) ATTCAC/TATGTA 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1882640861,2
    --49318894(+) TTGGGA/GGGTCT 1 -- int10--------
    rs1927616401,2
    --49318931(+) GAAACG/TTTTAA 1 -- int10--------
    rs1837276401,2
    --49319041(+) TTTTAA/GTGTTT 1 -- int10--------
    rs1881573151,2
    --49319181(+) AAAAAC/TAGATG 1 -- int10--------
    rs1809520691,2
    --49319316(+) AACAAA/GTGAGA 1 -- int10--------
    rs1847486581,2
    --49319437(+) AGTAGA/TCCCTC 1 -- int10--------
    rs1896185101,2
    --49319462(+) CAAAAG/TCCTAG 1 -- int10--------
    rs1818638921,2
    --49319613(+) TGAATA/GGCACT 1 -- int10--------
    rs610627601,2
    C--49319627(+) CTTCTG/AAAACA 1 -- int12Minor allele frequency- A:0.09WA 120
    rs1478936591,2
    --49319761(+) ATAGTA/CATTTA 1 -- int10--------
    rs1401039621,2
    --49319771(+) AGTTAC/TAGTAA 1 -- int10--------
    rs1500260091,2
    C--49319826(+) TCATAC/TGATGT 1 -- int10--------
    rs2014108041,2
    --49319872(+) TGTAA-/CCTCCTCG 1 -- cds10--------
    rs745262661,2
    --49319877(+) AACCTT/CGAGGA 1 -- int11Minor allele frequency- C:0.00CSA 1
    rs1453431331,2
    --49319959(+) GCTTTA/TCATAT 1 -- int10--------
    rs2015598751,2
    --49320105(+) GAGTT-/AAAAAA 1 -- int10--------
    rs64586881,2
    C,A--49320113(+) AAAAAA/GACAAC 1 -- int16Minor allele frequency- G:0.47NA WA CSA EA 363
    rs1868831751,2
    --49320129(+) TAAACA/GAAAAT 1 -- int10--------
    rs1913506111,2
    --49320164(+) TATTGC/TTATTT 1 -- int10--------
    rs69412761,2
    C,F--49320274(+) AGTAAT/ACTTCA 1 -- int13Minor allele frequency- A:0.21WA NA EA 358
    rs1492315411,2
    --49320279(+) TCTTCA/CTAGTT 1 -- int10--------
    rs1811406191,2
    --49320321(+) GACACA/TTTTAA 1 -- int10--------
    rs69183471,2
    C,F,A,H--49320405(+) actccG/Atgtca 1 -- int115Minor allele frequency- A:0.45NS EA NA WA CSA 911
    rs1433833921,2
    --49320614(+) CAAGCC/TTACAT 1 -- int10--------
    rs1855509201,2
    --49320639(+) GGATGC/TTTCCT 1 -- int10--------
    rs1166395171,2
    F--49320686(+) GAACTC/TGGACT 1 -- int11Minor allele frequency- T:0.01WA 118
    rs1466762401,2
    --49320694(+) ACTGGC/TTCTCC 1 -- int10--------
    rs1895273491,2
    --49320726(+) ACCTAC/TTGTGG 1 -- int10--------
    rs1822382271,2
    --49320887(+) GCTCAA/GGCTGG 1 -- int10--------
    rs1877362131,2
    --49320905(+) ATATAA/CCACTT 1 -- int10--------
    rs44586861,2
    C,A--49320982(+) gttcaC/Tgatag 1 -- int10--------
    rs94735541,2
    C,A,H--49321110(+) gcaggC/Gccttc 1 -- int1 trp31Minor allele frequency- G:0.00NA 2
    rs94634821,2
    C,F,A--49321126(+) aaatcT/Ctagag 1 -- int11Minor allele frequency- C:0.49EA 120
    rs1921322941,2
    --49321379(+) GAGGAA/CTGTGT 1 -- int10--------
    rs1379117901,2
    C--49321391(+) GCTTCC/TAAAAA 1 -- int10--------
    rs1835878111,2
    --49321404(+) CAAATA/GGGCCC 1 -- int10--------
    rs1885142721,2
    --49321540(+) AGGTCA/CCTGAA 1 -- int10--------
    rs1417398311,2
    --49321621(+) TTCTTA/GCTCAC 1 -- int10--------
    rs1931709221,2
    --49321678(+) TCTTGA/CAGAAG 1 -- int10--------
    rs1501511301,2
    C--49321706(+) CTCTCC/TGAATA 1 -- int10--------
    rs1997356811,2
    --49321959(+) TCCCCC/GCAACA 1 -- int10--------
    rs2015365361,2
    --49322067(+) GTCCCA/GTTTTT 2 T M mis10--------
    rs2009968921,2
    --49322090(+) CGAGGC/TCTGCG 2 R syn10--------
    rs1995928431,2
    --49322160(+) AGATAC/TTAATT 1 -- int10--------
    rs3707613571,2
    C--49322258(+) GGGTT-/TTTTTT 1 -- int10--------
    rs781007731,2
    C,F--49322299(+) TTAATG/ATGCAG 1 -- int11Minor allele frequency- A:0.07WA 118
    rs1157419341,2
    C,F--49322408(+) TGATCT/CCCCTA 1 -- int11Minor allele frequency- C:0.02WA 118
    rs1840577241,2
    --49322419(+) CTCTCA/GTCCAT 1 -- int10--------
    rs1141691371,2
    F--49322563(+) ACAACC/ATCCCA 1 -- int11Minor allele frequency- A:0.01WA 118
    rs1871894071,2
    --49322569(+) TCCCAA/CCTTCG 1 -- int10--------
    rs1125507481,2
    C,F--49322684(+) TGTCCG/ATATCT 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1913859161,2
    --49322976(+) AAATAC/TGATCA 1 -- int10--------
    rs1839614311,2
    --49323021(+) TAAATA/GTAAGT 1 -- int10--------
    rs1119899891,2
    F--49323169(+) TACCAC/TAGTAA 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1905471141,2
    --49323194(+) AAATAC/TCTGGA 1 -- int10--------
    rs2000615801,2
    --49323445(+) TCTAT-/TATATGT 1 -- int10--------
    rs1822418221,2
    --49323497(+) ATTATA/TAAATT 1 -- int10--------
    rs94735551,2
    C,F,A,H--49323544(+) TCCCAG/CTAGAT 1 -- int110Minor allele frequency- C:0.28NS EA NA WA CSA 773
    rs1116737721,2
    F--49323554(+) TTCAAG/AGGGAT 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1474266161,2
    C--49323575(+) GAAAAA/GATGAA 1 -- int10--------
    rs2018882261,2
    --49323617(+) CTTGAC/TAGCAG 2 I V mis10--------
    rs94735561,2,,4
    C,H--49323626(+) AGATGT/CTATCT 2 /T /A mis1 ese35Minor allele frequency- C:0.00NS EA NA 408
    rs1418290431,2
    F--49323655(+) CCTGGC/AGATAT 2 /R /L mis11Minor allele frequency- A:0.00NA 4548
    rs1407270181,2
    C,F--49323656(+) CTGGCG/AATATG 2 /R /C mis11Minor allele frequency- A:0.00NA 4548
    rs2011389751,2
    --49323660(+) CGATAC/TGCTCC 2 A syn10--------
    rs1137462691,2
    C--49323771(+) TTAACT/ATCATT 1 -- int12Minor allele frequency- A:0.05WA 120
    rs94735571,2
    C,F,A--49323794(+) AGATAT/CCTGTT 1 -- int16Minor allele frequency- C:0.35NA CSA WA EA EU 1678
    rs1898692831,2
    --49323828(+) AACATG/TTTATT 1 -- int10--------
    rs117597161,2
    H--49323847(+) AAATGA/CCTGTA 1 -- int14Minor allele frequency- C:0.00NS EA 382
    rs94634831,2
    C,F,A--49323905(+) TGAAAT/ATACTT 1 -- int13Minor allele frequency- A:0.30WA NA EA 358
    rs1819274301,2
    --49324034(+) AATAAC/TTCACC 1 -- int10--------
    rs1126471251,2
    F--49324107(+) TTTAGC/TATATT 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs734279871,2
    C--49324118(+) CCATCC/TATTTG 1 -- int12Minor allele frequency- T:0.05WA 120
    rs1853123501,2
    --49324465(+) GGGAAC/TATAAA 1 -- int10--------
    rs1474834941,2
    --49324540(+) TTTATG/TTTCTA 1 -- int10--------
    rs1400250111,2
    --49324573(+) GAACAC/TGGCAT 1 -- int10--------
    rs1428709761,2
    --49324652(+) CTATCA/GGAAGA 1 -- int10--------
    rs1902732341,2
    --49324724(+) TTTTTA/TAATGA 1 -- int10--------
    rs1808352981,2
    --49324753(+) ACAGTA/TCATAC 1 -- int10--------
    rs1478394951,2
    C--49324794(+) AACAT-/ATTTTT 1 -- int10--------
    rs1148044651,2
    F--49324851(+) ATCATT/CTAATG 1 -- int11Minor allele frequency- C:0.02WA 118
    rs1851938981,2
    --49325068(+) GAAAAA/GTGGAG 1 -- int10--------
    rs1922254241,2
    --49325095(+) ATTACA/CAAAGA 1 -- int10--------
    rs794601551,2
    C,F--49325128(+) TTCCTC/TTCCTT 1 -- int11Minor allele frequency- T:0.03EA 120
    rs1510979551,2
    --49325190(+) CATCAC/TTCACA 1 -- int10--------
    rs1837064971,2
    C--49325257(+) TTGTAA/GTAACA 1 -- int10--------
    rs1398678921,2
    C--49325315(+) CCCCAC/TTATAC 1 -- int10--------
    rs1891468521,2
    --49325364(+) GACTCC/TTTCTG 1 -- int10--------
    rs1913979361,2
    --49325392(+) TTTATA/TTATAT 1 -- int10--------
    rs1153921711,2
    C,F--49325471(+) GTGCCA/GTATTC 1 -- int11Minor allele frequency- G:0.04NA 120
    rs77445951,2
    C,F,A--49325534(+) AGGTAG/CTAAGT 1 -- int110Minor allele frequency- C:0.33NA WA CSA EA 501
    rs1831736451,2
    --49325641(+) ATGCAA/GGATGA 1 -- int10--------
    rs64586901,2
    C,F,A,H--49325676(+) TGTTAA/GGGGTT 1 -- int123Minor allele frequency- G:0.32NA NS EA WA CSA 2483
    rs1871404701,2
    --49325838(+) TCAAAC/TGCAGT 1 -- int10--------
    rs1918699751,2
    --49325846(+) AGTAGA/TCCAAA 1 -- int10--------
    rs749874551,2
    F--49325943(+) TGGGAG/AGGGGG 1 -- int12Minor allele frequency- A:0.13NA EA 240
    rs768045221,2
    C,F--49325944(+) GGGAGG/TGGGGT 1 -- int12Minor allele frequency- T:0.12NA EA 240
    rs64586911,2
    C,A--49325945(+) GGAGGA/C/GGGGTG 1 -- int1 trp30--------
    rs1468699761,2
    --49326007(+) AGCAAC/TGGGAT 1 -- int10--------
    rs1402365751,2
    --49326079(+) ACTGGA/TAAAAT 1 -- int10--------
    rs1439634711,2
    --49326101(+) AGGCAC/TAAACC 1 -- int10--------
    rs1822384261,2
    --49326215(+) ATTAAA/TACAGT 1 -- int10--------
    rs93817861,2
    C,F,H--49326332(+) AACCTT/GTTATT 1 -- int117Minor allele frequency- G:0.20NS EA NA CSA WA 2341
    rs1998868051,2
    C--49326399(+) CTTATA/GTATCT 1 -- int11Minor allele frequency- G:0.00EU 593
    rs781507501,2
    C--49326455(+) ATCTCC/TGCTAG 2 R G mis11Minor allele frequency- T:0.00NA 4550
    rs1506428561,2
    C,F--49326456(+) TCTCCG/ACTAGC 2 /S syn12Minor allele frequency- A:0.00NA EU 5873
    rs11413211,2,,4
    C,F,H--49326490(-) TGAACA/C/GTTGTC 3 H P R mis135EA NA MN NS WA CSA EU 9516
    rs1446652331,2
    C--49326520(+) TGGATT/CTGATC 2 /K /R mis11Minor allele frequency- C:0.00NA 4550
    rs2021020061,2
    C,F--49326565(+) GAAGAG/CAGAAT 1 -- int11Minor allele frequency- C:0.01EU 593
    rs1874739351,2
    --49326699(+) TTCAAC/TTCATT 1 -- int10--------
    rs1927541661,2
    --49326785(+) TAGTGA/CTGACC 1 -- int10--------
    rs579227741,2
    C--49326805(+) AGCAC-/ATGTTAC 1 -- int10--------
    rs1853710311,2
    C--49326967(+) AACAAC/TGTATT 1 -- int10--------
    rs1906670411,2
    --49327023(+) GAGAGC/TGAAAG 1 -- int10--------
    rs1464203761,2
    --49327053(+) TACAAA/TGAAAA 1 -- int10--------
    rs1920653061,2
    --49327063(+) AGCACA/GGTAAA 1 -- int10--------
    rs1845114171,2
    C--49327282(+) CACTGC/TCCACC 1 -- int10--------
    rs93817871,2
    C,F,A,H--49327301(+) AGATAC/GCAAAA 1 -- int110Minor allele frequency- G:0.46NS EA NA WA CSA 777
    rs1884697601,2
    --49327329(+) CCCTTA/TTATAA 1 -- int10--------
    rs93817881,2
    C,A--49327346(+) GTAGTA/GTTTGC 1 -- int15Minor allele frequency- G:0.47NA WA EA 362
    rs1813166291,2
    --49327380(+) GTATAC/TTTTAA 1 -- int10--------
    rs93817891,2
    C,A--49327448(+) TTATAC/GTGTAT 1 -- int15Minor allele frequency- G:0.48NA WA EA 362
    rs1866205881,2
    --49327536(+) AATTCA/TTTATT 1 -- int10--------
    rs1131144631,2
    F--49327568(+) ACCCAC/TAGATA 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1430670951,2
    --49327613(+) TCAACG/TCCAAA 1 -- int10--------
    rs579129291,2
    C,F--49328033(+) AAACCA/GTAGGT 1 -- int12Minor allele frequency- G:0.12NA EA 240
    rs92966161,2
    C,F,A,H--49328292(+) TCACTT/GATACT 1 -- int19Minor allele frequency- G:0.23NS EA NA WA 780
    rs1890630001,2
    C--49328339(+) TAGTTC/TCCTCA 1 -- int10--------
    rs1809206691,2
    --49328373(+) TAACTA/GCCTGT 1 -- int10--------
    rs1870219511,2
    --49328413(+) TCAAGA/GAAAGG 1 -- int10--------
    rs1924899821,2
    C--49328476(+) TGCTAC/TATTGT 1 -- int10--------
    rs1402600921,2
    --49328558(+) TATGAA/CGATAT 1 -- int10--------
    rs1470150961,2
    --49328784(+) AAAATA/GTATAG 1 -- int10--------
    rs1381598671,2
    --49328820(+) TTTATC/TTATTT 1 -- int10--------
    rs47151291,2
    C,F,A--49329100(+) AGTTAC/TATAAT 1 -- int19Minor allele frequency- T:0.32NA WA CSA EA 505
    rs1829488251,2
    --49329137(+) AATTAC/TGGAAG 1 -- int10--------
    rs1437242271,2
    --49329204(+) TATCAC/TGGTTT 1 -- int10--------
    rs1474703011,2
    --49329360(+) TTTAAA/GCAGGA 1 -- int10--------
    rs2006093461,2
    --49329397(+) GAACAC/GAGAAA 1 -- int10--------
    rs1996558961,2
    C--49329441(+) ATACCG/TTCTTA 2 K T mis10--------
    rs2014835941,2
    --49329461(+) ATCTGC/TCTGTT 2 R syn10--------
    rs22293851,2,,4
    C,F--49329505(-) AAGACG/ACTGTA 2 /T /A mis19Minor allele frequency- A:0.11NS EA WA NA EU 6587
    rs1381332891,2
    C--49329597(+) AATTAC/TCTAAT 1 -- int10--------
    rs1495981971,2
    --49329631(+) TTTTCC/TTTATA 1 -- int10--------
    rs1862167221,2
    --49329790(+) ATTAAC/TATACA 1 -- int10--------
    rs1442688461,2
    --49329802(+) TTTCCA/CACGGT 1 -- int10--------
    rs1906985691,2
    --49329815(+) CTAATA/CAATCT 1 -- int10--------
    rs1487767251,2
    --49329893(+) CAGTAA/GCTTTT 1 -- int10--------
    rs1437525941,2
    --49329926(+) CAGTCA/GCTTTT 1 -- int10--------
    rs69036671,2
    C,F,H--49330060(+) ACAACC/ACCTAC 1 -- int15Minor allele frequency- A:0.01NS EA CSA 418
    rs1397809591,2
    --49330108(+) TATCAG/TGATCT 1 -- int10--------
    rs1825727471,2
    --49330192(+) AGGTCA/GTGTCT 1 -- int10--------
    rs1882725701,2
    --49330369(+) ACAATA/GGTTAG 1 -- int10--------
    rs1112446931,2
    F--49330385(+) CACACC/ACACTT 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs131941031,2
    C,F,H--49330395(+) TTGTAC/AATATG 1 -- int17Minor allele frequency- A:0.01NS EA NA 422
    rs1921663771,2
    --49330409(+) GCCTGC/TGTGCA 1 -- int10--------
    rs1830169251,2
    --49330517(+) CATGTC/TATCTT 1 -- int10--------
    rs1887665101,2
    C--49330613(+) TCGGGA/CAGCAC 2 A S mis10--------
    rs2007268001,2
    --49330685(+) TTCAAC/TTTCAT 2 I V mis10--------
    rs1995555501,2
    --49330705(+) AAAAAA/GAAAAA 1 -- int10--------
    rs1116674531,2
    C--49330715(+) ACATTC/AACAAA 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs47151301,2
    C,F,A,H--49330882(+) ATAGTT/CACTTG 1 -- int110Minor allele frequency- C:0.22NS EA NA WA 782
    rs754278721,2
    F--49330975(+) ATCTTT/CATTTT 1 -- int11Minor allele frequency- C:0.09WA 118
    rs1496962951,2
    --49330987(+) AGGTAC/TATAAA 1 -- int10--------
    rs2014836881,2
    C--49331140(-) TTTCTG/TCCTTC 1 -- int10--------
    rs1926211871,2
    --49331143(+) GGCAGA/TAAACA 1 --