| Nomenclature | Genomic Location |
| Symbol | Mut | Chromosome | 1 |
| Name | Methylmalonyl-CoA mutase | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | 1: 46 Mbp |
| Molecular Function |
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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
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| Human Disease Association |
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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.
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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
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