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Gene Model: Mut

NomenclatureGenomic Location
SymbolMutChromosome1
NameMethylmalonyl-CoA mutaseLinkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates1: 46 Mbp

Molecular Function

Involved in the degradation of several amino acids, odd-chain fatty acids and cholesterol via propionyl-CoA to the tricarboxylic acid cycle

Molecular Function Terms:

catalytic activity
   isomerase activity
      intramolecular transferase activity

Human Disease Association

Defects in MUT are the cause of methylmalonic aciduria type mut (MMAM) [MIM:251000]. MMAM is 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.

Predicted Transcript
     1 ATGTTTAGAAGCAAGAATGGGATTCTTCGCATCTGGCCCTTCTGTTACAAGAAAGAAGCG
    61 GGATCACAGCACCGAGAACACATTCAGCGCTCGCTGCATGAACTACATCCAGGATGGGCT
   121 GCAATGGCCAAAACACAGCTAAAAGGGAAGGACCCAGGGGAGTTGATGTGGCACACTCCA
   181 GAGGGAATTTCCATTAAACCTCTTTATTCAGCAAGAGACACAAAAGACCTTCCTGAGGAA
   241 TTACCTGGACTAAAGCCCTTCACTCGTGGTCCTTACCCTACCATGTATACCTATAGGCCT
   301 TGGACCATCCGCCAATATGCTGGCTTCAGTACTGTGGAGGAAAGTAACAAATTCTACAAG
   361 GACAACATCAGGGCTGGCCAGCAAGGTTTATCAGTTGCTTTTGATCTGGCAACTCATCGT
   421 GGTTATGATTCAGACAACCCTCGAGTACGTGGTGATGTTGGAATGGCTGGAGTTGCCATT
   481 GATACCGTTGAAGACACTAAGATACTTTTTGATGGAATTCCTTTGGAGAAAATGTCTGTT
   541 TCAATGACAATGAACGGGGCAGTAATTCCCATTTTAGCTAATTTCATTGTTGCTGGGGAA
   601 GAACAAGGAGTACCTCAATCCAAGCTGACAGGGACGATACAGAATGATATACTGAAGGAA
   661 TTCATGGTTCGAAATACATACATTTTCCCACCAGAACCATCCATGAGGATAATTGCTGAT
   721 ATCTTCCAATATACATCAAAGCACATGCCCAAATTTAATTCGATTTCTATCAGTGGATAC
   781 CATATGCAGGAGGCTGGAGCTGATGCTATTTTGGAATTAGCTTATACTGTGGCTGATGGC
   841 TTGGAGTACTGTAGAACTGGACTTCAGGCTGGTCTCACCATTGATGAGTTTGCACCAAGG
   901 TTATCATTCTTTTGGGGAATTGGTATGAACTTCTACATGGAAATAGCTAAGCTGAGAGCT
   961 GGGAGGCGCCTCTGGGCTCACTTAATAGAGAGAATGTTTCAGCCCAAGGACAGCAAATCG
  1021 CTTCTCCTCAGAGCTCATTGTCAGACTTCTGGATGGTCATTGACTGAGCAGGATCCTTAT
  1081 AATAATATTATCCGCACAGCAATTGAGGCAATGGCTGCTGTATTTGGAGGCACTCAGTCC
  1141 TTGCATACAAATTCCTTTGATGAAGCTTTGGGATTACCAACTGTGAAAAGTGCTCGAATT
  1201 GCCAGGAATACCCAAATTATAATACAAGAAGAATCTGGCATTCCTAAAGTTGCAGATCCA
  1261 TGGGGTGGTTCATTTCTAATGGAATCTCTCACCAATGATGTATATGAAGCTGCATTAAAG
  1321 CTCATTGATGAGATTGAAGAAATGGGTGGAATGGCCAAAGCTGTAGCTGAAGGAATACCA
  1381 AAACTTCGCATTGAAGAGTGTGCTGCTCGAAGGCAAGCCAGGATTGATTCTGGTTCTGAA
  1441 GTAATTGTTGGAGTAAATAAGTACCAGTTAGAAAAAGAAGAGACCGTTGAAGTTTTAGCA
  1501 ATTGATAACACTTCAGTTCGCAACAAACAAATTGAGAAACTGAAAAGGGTGAAAGCTAGT
  1561 AGAGATGAAGCAGCAGCCCAGAGTTGTCTTGCCGCCCTGACAGATTGTGCAGCCACCAGC
  1621 CAAGGCAACCTGCTGGCCCTAGCAGTAGAAGCAGCACGTGCCAGATGTACAGTTGGTGAA
  1681 ATAACAAATGCAATGAAAAAGGTATTTGGTGAGCATAGAGCTAGTGATCGCATGGTGAGT
  1741 GGTGCTTACCGTCAGGAATTTGGGGAGAGTGATGAAATTGTTCGAGTAATTAATAGAGTC
  1801 AACACATTTATGGAATGTGAAGGTCGTAGACCACGTCTTCTTGTTGCTAAAATGGGGCAG
  1861 GATGGCCACGACAGAGGAGCCAAAGTGATTGCTACGGGATTTGCAGATCTTGGATTTGAT
  1921 GTTGATATAAGTCCACTGTTCCAGACACCTCATGAAGTGGCCCAGCAGGCTGTAGATGCT
  1981 GATGTGCATTGTGTTGGTGTGAGTACTCTAGCTGCTGGTCACAAAACACTTGTTCCAGAA
  2041 CTCATCAAAGAGCTGAGTGCCCTCGGCCGCCCAGATATACTGGTCATGTGTGGAGGTGTC
  2101 ATCCCACCTCAGGATTATGACTTCCTGTATGATTCTGGTGTCTCCAATATATTTGGCCCA
  2161 GGAACTCGAATACCAAAGGCAGCTCTCCAAGTTCTTGATGATATCGAGAAATGCCTGAAT
  2221 AAGAGGCAACAATTGTTGTAA

Predicted Protein Product
MFRSKNGILRIWPFCYKKEAGSQHREHIQRSLHELHPGWAAMAKTQLKGKDPGELMWHTP
EGISIKPLYSARDTKDLPEELPGLKPFTRGPYPTMYTYRPWTIRQYAGFSTVEESNKFYK
DNIRAGQQGLSVAFDLATHRGYDSDNPRVRGDVGMAGVAIDTVEDTKILFDGIPLEKMSV
SMTMNGAVIPILANFIVAGEEQGVPQSKLTGTIQNDILKEFMVRNTYIFPPEPSMRIIAD
IFQYTSKHMPKFNSISISGYHMQEAGADAILELAYTVADGLEYCRTGLQAGLTIDEFAPR
LSFFWGIGMNFYMEIAKLRAGRRLWAHLIERMFQPKDSKSLLLRAHCQTSGWSLTEQDPY
NNIIRTAIEAMAAVFGGTQSLHTNSFDEALGLPTVKSARIARNTQIIIQEESGIPKVADP
WGGSFLMESLTNDVYEAALKLIDEIEEMGGMAKAVAEGIPKLRIEECAARRQARIDSGSE
VIVGVNKYQLEKEETVEVLAIDNTSVRNKQIEKLKRVKASRDEAAAQSCLAALTDCAATS
QGNLLALAVEAARARCTVGEITNAMKKVFGEHRASDRMVSGAYRQEFGESDEIVRVINRV
NTFMECEGRRPRLLVAKMGQDGHDRGAKVIATGFADLGFDVDISPLFQTPHEVAQQAVDA
DVHCVGVSTLAAGHKTLVPELIKELSALGRPDILVMCGGVIPPQDYDFLYDSGVSNIFGP
GTRIPKAALQVLDDIEKCLNKRQQLL
Protein Alignment to Mouse
tr|Q8VED0|Q8VED0_MOUSE Mut protein OS=Mus musculus GN=Mut PE=2 SV=1
      MGI:1915987 Angel1 angel homolog 1 (Drosophila) (Chr 12)
        Length = 748

 Score = 3335 (1179.0 bits), Expect = 0., P = 0.
 Identities = 639/747 (85%), Positives = 685/747 (91%)

Query:     1 MFRSKNGILRIWPFCYKKEAGSQHREHIQRSLHE---LHPGWAAMAKTQLKGKDPGELMW 57
             M R+KN +  + P  Y K+         +R LH+   LHP WA +AK QLKGK+P +L+W
Sbjct:     1 MLRAKNQLFLLSPH-YLKQLNIPSASRWKRLLHQQQPLHPEWAVLAKKQLKGKNPEDLIW 59

Query:    58 HTPEGISIKPLYSARDTKDLPEELPGLKPFTRGPYPTMYTYRPWTIRQYAGFSTVEESNK 117
             HTPEGISIKPLYS  DT DLPEELPG+KPFTRGPYPTMYTYRPWTIRQYAGFSTVEESNK
Sbjct:    60 HTPEGISIKPLYSRADTLDLPEELPGVKPFTRGPYPTMYTYRPWTIRQYAGFSTVEESNK 119

Query:   118 FYKDNIRAGQQGLSVAFDLATHRGYDSDNPRVRGDVGMAGVAIDTVEDTKILFDGIPLEK 177
             FYKDNI+AGQQGLSVAFDLATHRGYDSDNPRVRGDVGMAGVAIDTVEDTKILFDGIPLEK
Sbjct:   120 FYKDNIKAGQQGLSVAFDLATHRGYDSDNPRVRGDVGMAGVAIDTVEDTKILFDGIPLEK 179

Query:   178 MSVSMTMNGAVIPILANFIVAGEEQGVPQSKLTGTIQNDILKEFMVRNTYIFPPEPSMRI 237
             MSVSMTMNGAVIP+LA FIV GEEQGVP+ KLTGTIQNDILKEFMVRNTYIFPPEPSM+I
Sbjct:   180 MSVSMTMNGAVIPVLATFIVTGEEQGVPKEKLTGTIQNDILKEFMVRNTYIFPPEPSMKI 239

Query:   238 IADIFQYTSKHMPKFNSISISGYHMQEAGADAILELAYTVADGLEYCRTGLQAGLTIDEF 297
             IADIFQYT++HMPKFNSISISGYHMQEAGADAILELAYT+ADGLEYCRTGLQAGLTIDEF
Sbjct:   240 IADIFQYTAQHMPKFNSISISGYHMQEAGADAILELAYTIADGLEYCRTGLQAGLTIDEF 299

Query:   298 APRLSFFWGIGMNFYMEIAKLRAGRRLWAHLIERMFQPKDSKSLLLRAHCQTSGWSLTEQ 357
             APRLSFFWGIGMNFYMEIAK+RAGRRLWAHLIE+MFQPK+SKSLLLRAHCQTSGWSLTEQ
Sbjct:   300 APRLSFFWGIGMNFYMEIAKMRAGRRLWAHLIEKMFQPKNSKSLLLRAHCQTSGWSLTEQ 359

Query:   358 DPYNNIIRTAIEAMAAVFGGTQSLHTNSFDEALGLPTVKSARIARNTQIIIQEESGIPKV 417
             DPYNNI+RTAIEAMAAVFGGTQSLHTNSFDEALGLPTVKSARIARNTQIIIQEESGIPKV
Sbjct:   360 DPYNNIVRTAIEAMAAVFGGTQSLHTNSFDEALGLPTVKSARIARNTQIIIQEESGIPKV 419

Query:   418 ADPWGGSFLMESLTNDVYEAALKLIDEIEEMGGMAKAVAEGIPKLRIEECAARRQARIDS 477
             ADPWGGS++MESLTNDVYEAALKLI E+EEMGGMAKAVAEGIPKLRIEECAARRQARIDS
Sbjct:   420 ADPWGGSYMMESLTNDVYEAALKLIHEVEEMGGMAKAVAEGIPKLRIEECAARRQARIDS 479

Query:   478 GSEVIVGVNKYQLEKEETVEVLAIDNTSVRNKQIEKLKRVKASRDEAAAQSCLAALTDCA 537
             GSEVIVGVNKYQLEKE++VEVLAIDNTSVR KQIEKLK++K+SRD+A A+ CL+ALT CA
Sbjct:   480 GSEVIVGVNKYQLEKEDSVEVLAIDNTSVRKKQIEKLKKIKSSRDQALAEQCLSALTQCA 539

Query:   538 ATSQGNXXXXXXXXXXXXCTVGEITNAMKKVFGEHRASDRMVSGAYRQEFGESDEIVRVI 597
             A+  GN            CTVGEIT+A+KKVFGEH+A+DRMVSGAYRQEFGES EI   I
Sbjct:   540 ASGDGNILALAVDAARARCTVGEITDALKKVFGEHKANDRMVSGAYRQEFGESKEITSAI 599

Query:   598 NRVNTFMECEGRRPRLLVAKMGQDGHDRGAKVIATGFADLGFDVDISPLFQTPHEVAQQA 657
              RVN FME EGRRPRLLVAKMGQDGHDRGAKVIATGFADLGFDVDI PLFQTP EVAQQA
Sbjct:   600 KRVNKFMEREGRRPRLLVAKMGQDGHDRGAKVIATGFADLGFDVDIGPLFQTPREVAQQA 659

Query:   658 VDADVHCVGVSTLAAGHKTLVPELIKELSALGRPDILVMCGGVIPPQDYDFLYDSGVSNI 717
             VDADVH VGVSTLAAGHKTLVPELIKEL+ALGRPDILVMCGGVIPPQDY+FLY+ GVSN+
Sbjct:   660 VDADVHAVGVSTLAAGHKTLVPELIKELTALGRPDILVMCGGVIPPQDYEFLYEVGVSNV 719

Query:   718 FGPGTRIPKAALQVLDDIEKCLNKRQQ 744
             FGPGTRIP+AA+QVLDDIEKCL ++QQ
Sbjct:   720 FGPGTRIPRAAVQVLDDIEKCLAEKQQ 746