LOCUS AH012193 3502 bp DNA linear HUM 10-JUN-2016
DEFINITION Homo sapiens methylmalonic aciduria type A (MMAA) gene, complete
cds.
ACCESSION AH012193 AF524841 AF524842 AF524843 AF524844 AF524845 AF524846
VERSION AH012193.2
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 3502)
AUTHORS Dobson,C.M., Wai,T., Leclerc,D., Wilson,A., Wu,X., Dore,C.,
Hudson,T., Rosenblatt,D.S. and Gravel,R.A.
TITLE Identification of the gene responsible for the cblA complementation
group of vitamin B12-responsive methylmalonic acidemia based on
analysis of prokaryotic gene arrangements
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 99 (24), 15554-15559 (2002)
PUBMED 12438653
REFERENCE 2 (bases 1 to 3502)
AUTHORS Dobson,C.M., Wai,T., Leclerc,D., Wilson,A., Wu,X., Dore,C.,
Hudson,T.J., Rosenblatt,D.S. and Gravel,R.A.
TITLE Direct Submission
JOURNAL Submitted (22-JUN-2002) Biochemistry and Molecular Biology,
University of Calgary, Rm 250, 3330 Hospital Drive NW, Calgary,
Alberta T2N 4N1, Canada
COMMENT On or before Jun 10, 2016 this sequence version replaced
AF524841.1, AF524842.1, AF524843.1, AF524844.1, AF524845.1,
AF524846.1, AH012193.1.
FEATURES Location/Qualifiers
source 1..3502
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
gene 4..>3502
/gene="MMAA"
mRNA join(4..507,632..754,1178..1348,1837..1922,2571..2720,
3064..>3502)
/gene="MMAA"
/product="methylmalonic aciduria type A"
exon 4..507
/gene="MMAA"
/number=1
CDS join(69..507,632..754,1178..1348,1837..1922,2571..2720,
3064..3351)
/gene="MMAA"
/note="responsible for the cblA complementation group of
vitamin B12 disorders in humans"
/codon_start=1
/product="methylmalonic aciduria type A"
/protein_id="AAN77287.1"
/translation="MPMLLPHPHQHFLKGLLRAPFRCYHFIFHSSTHLGSGIPCAQPF
NSLGLHCTKWMLLSDGLKRKLCVQTTLKDHTEGLSDKEQRFVDKLYTGLIQGQRACLA
EAITLVESTHSRKKELAQVLLQKVLLYHREQEQSNKGKPLAFRVGLSGPPGAGKSTFI
EYFGKMLTERGHKLSVLAVDPSSCTSGGSLLGDKTRMTELSRDMNAYIRPSPTRGTLG
GVTRTTNEAILLCEGAGYDIILIETVGVGQSEFAVADMVDMFVLLLPPAGGDELQGIK
RGIIEMADLVAVTKSDGDLIVPARRIQAEYVSALKLLRKRSQVWKPKVIRISARSGEG
ISEMWDKMKDFQDLMLASGELTAKRRKQQKVWMWNLIQESVLEHFRTHPTVREQIPLL
EQKVLIGALSPGLAADFLLKAFKSRD"
gap 516..615
/estimated_length=unknown
exon 632..754
/gene="MMAA"
/number=2
gap 1013..1112
/estimated_length=unknown
exon 1178..1348
/gene="MMAA"
/number=3
gap 1620..1719
/estimated_length=unknown
exon 1837..1922
/gene="MMAA"
/number=4
gap 2190..2289
/estimated_length=unknown
exon 2571..2720
/gene="MMAA"
/number=5
gap 2876..2975
/estimated_length=unknown
exon 3064..>3502
/gene="MMAA"
/number=6
BASE COUNT 931 a 506 c 638 g 927 t
ORIGIN
1 tagggaggtc acaatcacat tgagccaaaa cgcatccagt gttttctcca gttacaaata
61 aaacgaatat gcccatgctg ctaccacatc ctcaccagca tttcctaaaa ggccttttaa
121 gagcaccttt ccgatgttac cacttcatct ttcactcaag tactcatctc ggatcaggaa
181 tcccatgtgc tcagccgttt aattctcttg gactccattg tacaaagtgg atgctgctgt
241 cagatggctt aaagagaaaa ttatgtgtac aaacaacctt aaaggaccac acagaaggac
301 tttctgataa agagcaaaga tttgtggata aactttatac tggtttaatc caagggcaaa
361 gggcctgttt agcagaggcc ataactcttg tagaatcaac tcacagcagg aaaaaggagt
421 tagcccaggt gcttcttcag aaagtattac tttaccacag agaacaagaa caatcaaata
481 aaggaaaacc actagcattt cgagtaggtc agtctnnnnn nnnnnnnnnn nnnnnnnnnn
541 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
601 nnnnnnnnnn nnnnntctct ttccaccgta ggattgtctg ggccccctgg tgctggaaaa
661 tcaacattta tagaatattt tggaaaaatg cttactgaga gagggcacaa attatctgtg
721 ctagctgtgg acccttcttc ttgtactagt ggtggtaagt atggctgatt ctttttcaat
781 tgcagaggtc tgggggcttt ctgttacaat ttagtaggaa ttggcacagt tgggtgacct
841 ctaactgcta gctaagtttg gtctcgctaa aggaagggag ttctgcagag ttaggtggaa
901 gctgagagaa gtagtttggg agtgttgtac tcctcagagg aggccagctt gtggatagct
961 cagtgggcac tcagaaaact gcgacaacag gtgccagaag ttgaagatga tcnnnnnnnn
1021 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
1081 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnggaactgg ctgataattg acccgtaaaa
1141 ctgttccatg attataaaat gtaactgtat gttttaggat cactcttagg tgataaaacc
1201 cgaatgactg agttatcaag agatatgaat gcatacatca ggccatctcc tactagagga
1261 actttaggag gcgtgacaag gaccacaaat gaagctattc tgttgtgtga aggagcggga
1321 tatgacataa ttcttattga aaccgttggt gagtgtgata ttctatttca taacaatgta
1381 ctattttatg aatgctatat aaagatgagt gacaacttat ttttgttcat tcagcagata
1441 tttgctaaat gtataattaa atacaagata tcccatactc cctagaagat atgaatgtat
1501 aggttataat ctttaccctc caagatctta ttttaaaaag taaaaataag ccatctatct
1561 ggataactgt tatacaggtg gtatattata catgccagag gagaactgta aacattaggn
1621 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
1681 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnng gttgactgtg tgaccatgag
1741 tatgagtaaa tgaagtagaa tggaaatggt caatgtagtt gagaaagtca aataatggtg
1801 agtattttag gatatagttg tgatttacaa tttcaggtgt gggtcagtcg gagtttgctg
1861 ttgctgacat ggttgacatg tttgttttac tactgccacc agcaggagga gatgagctgc
1921 aggtaattat ttttattttt tcccccaaaa atataaaatg tatatctctg aaaataaaaa
1981 tttccaatgt tgtgtttttg taaactaagt tgataatggt ttagaaaatg aaatatcatt
2041 catgttggct aaaatacctg aatcaaaggc agattctcta tattttttcc taacttacag
2101 gaatagaata tgtgtccttg agaatgtaaa attatgcaac attaattttt ccatctgtaa
2161 catgactgaa atacatggat cgctccagcn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
2221 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
2281 nnnnnnnnnc tgccactcaa tcatgttgtg acttgatgta tttaccctaa ttctgaatgt
2341 atttcaacat gttagtctct aaatttggaa gagatattac agatgacttc tataattcca
2401 atagccaatg cttttgagta atttctgtca agtaatggtg attcttggca tccagggctt
2461 aggaggatat ggatgaaaag ttaatgaaat gtatgacttt caaaatctga gcattgacta
2521 gttttcccat ttttatgttg gttgtcatta aatgtttctg atctctttag ggtatcaaaa
2581 ggggtataat cgagatggca gatctggtag ctgtaactaa atctgatgga gacttgattg
2641 tgccagctcg aaggatacaa gcggaatatg tgagtgcact gaaattactc cgcaaacgtt
2701 cacaagtctg gaaaccaaag gtaagcttgc ttgcattctg tatctttcac tctgaatgga
2761 ttgtgtacat tagaagacag gatataagtc ccaaactaga catataatca atcttgcttc
2821 tatgtgaaga tgatagtttt aaaaatcatg acaaagacgg agtgtgtagt catgannnnn
2881 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
2941 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnntaaga attaactggc aggtatcagc
3001 gtccctgtaa aaattttttc tatcatttta agtaaaatgg tctggttctt cccttttcga
3061 taggtaattc gtatttctgc ccgaagtgga gaggggatct ctgaaatgtg ggataaaatg
3121 aaagatttcc aggacctaat gcttgccagt ggggagctga ctgccaaacg acggaagcaa
3181 cagaaagttt ggatgtggaa tctcattcag gaaagtgtgt tagagcattt caggacccac
3241 cccacagtcc gggaacagat tccacttctg gaacaaaagg ttctcattgg ggccctgtcc
3301 ccaggactag cagcagactt cttgttaaaa gcttttaaaa gcagagacta ataaaattca
3361 tcctgtataa taattttaca tatcatttca taaagtattt taatagaaaa atcacttgta
3421 tgcttatatt ttcagtaatt attgtatggt gctcttgtct tctttgtttg tgacccatgc
3481 ttgaaaactt gaaggaagtt ag
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