Entry HUMAN00917 (MMAC_HUMAN)

E Homo sapiens


General Information

Description
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria [Source:HGNC Symbol;Acc:HGNC:24525]
Organism
HUMAN - Homo sapiens (Taxon-ID: 9606)
Locus
1join(45500333..45500413, 45507356..45507550, 45508212..45508364, 45508796..45509215)
Number of exons
4

IDs and Cross-references

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Domain Architecture

Gene Ontology

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Protein Sequence

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MEPKVAELKQ KIEDTLCPFG FEVYPFQVAW YNELLPPAFH LPLPGPTLAF LVLSTPAMFD    60
RALKPFLQSC HLRMLTDPVD QCVAYHLGRV RESLPELQIE IIADYEVHPN RRPKILAQTA   120
AHVAGAAYYY QRQDVEADPW GNQRISGVCI HPRFGGWFAI RGVVLLPGIE VPDLPPRKPH   180
DCVPTRADRI ALLEGFNFHW RDWTYRDAVT PQERYSEEQK AYFSTPPAQR LALLGLAQPS   240
EKPSSPSPDL PFTTPAPKKP GNPSRARSWL SPRVSPPASP GP                      282

Coding Sequence

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ATGGAGCCGA AAGTCGCAGA GCTGAAGCAG AAGATCGAGG ACACGCTATG TCCTTTTGGC    60
TTCGAGGTTT ACCCCTTCCA GGTGGCATGG TACAATGAAC TCTTGCCTCC AGCCTTCCAC   120
CTACCGCTGC CAGGACCTAC CCTGGCCTTC CTGGTACTCA GCACGCCTGC CATGTTTGAC   180
CGGGCCCTCA AGCCCTTCTT GCAGAGCTGC CACCTCCGAA TGCTGACTGA CCCAGTGGAC   240
CAGTGTGTGG CCTACCATCT GGGCCGTGTT AGAGAGAGCC TCCCAGAGCT GCAGATAGAA   300
ATCATTGCTG ACTACGAGGT GCACCCCAAC CGACGCCCCA AGATCCTGGC CCAGACAGCA   360
GCCCATGTAG CTGGGGCTGC TTACTACTAC CAACGACAAG ATGTGGAGGC TGACCCATGG   420
GGGAACCAGC GCATATCAGG TGTGTGCATA CACCCCCGAT TTGGGGGCTG GTTTGCCATC   480
CGAGGGGTAG TGCTGCTGCC AGGGATAGAG GTGCCAGATC TGCCACCCAG AAAACCTCAT   540
GACTGTGTAC CTACAAGAGC TGACCGTATC GCCCTACTCG AAGGCTTCAA TTTCCACTGG   600
CGTGATTGGA CTTACCGGGA TGCTGTGACA CCCCAGGAGC GCTACTCAGA AGAGCAGAAG   660
GCCTACTTCT CCACTCCACC TGCCCAACGA TTGGCCCTAT TGGGCTTGGC TCAGCCCTCA   720
GAGAAGCCTA GTTCTCCCTC CCCGGACCTT CCCTTTACCA CACCCGCCCC CAAGAAGCCT   780
GGGAATCCCA GCAGAGCCCG GAGCTGGCTC AGCCCCAGGG TCTCACCACC TGCATCCCCT   840
GGCCCTTGA                                                           849