LOCUS HUMAMPD1 2341 bp mRNA linear HUM 16-DEC-1994 DEFINITION Human myoadenylate deaminase (AMPD1) mRNA, complete cds. ACCESSION M60092 VERSION M60092.1 KEYWORDS myoadenylate deaminase. 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 2341) AUTHORS Sabina,R.L., Fishbein,W.N., Pezeshkpour,G., Clarke,P.R. and Holmes,E.W. TITLE Molecular analysis of the myoadenylate deaminase deficiencies JOURNAL Neurology 42 (1), 170-179 (1992) PUBMED 1370861 COMMENT Original source text: Human, cDNA to mRNA. FEATURES Location/Qualifiers source 1..2341 /db_xref="H-InvDB:HIT000195920" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /map="1p13" /cell_type="skeletal muscle" /dev_stage="adult" gene 1..2341 /gene="AMPD1" mRNA 1..2341 /gene="AMPD1" /note="G00-119-677" CDS 85..2328 /gene="AMPD1" /EC_number="3.5.4.6" /codon_start=1 /product="myodenlate deaminase" /protein_id="AAA57281.1" /db_xref="GDB:G00-119-677" /translation="MPLFKLPAEEKQIDDAMRNFAEKVFASEVKDEGGRQEISPFDVD EICPISHHEMQAHIFHLETLSTSTEARRKKRFQGRKTVNLSIPLSETSSTKLSHIDEY ISSSPTYQTVPDFQRVQITGDYASGVTVEDFEIVCKGLYRALCIREKYMQKSFQRFPK TPSKYLRNIDGEAWVANESFYPVFTPPVKKGEDPFRTDNLPENLGYHLKMKDGVVYVY PNEAAVSKDEPKPLPYPNLDTFLDDMNFLLALIAQGPVKTYTHRRLKFLSSKFQVHQM LNEMDELKELKNNPHRDFYNCRKVDTHIHAAACMNQKHLLRFIKKSYQIDADRVVYST KEKNLTLKELFAKLKMHPYDLTVDSLDVHAGRQTFQRFDKFNDKYNPVGASELRDLYL KTDNYINGEYFATIIKEVGADLVEAKYQHAEPRLSIYGRSPDEWSKLSSWFVCNRIHC PNMTWMIQVPRIYDVFRSKNFLPHFGKMLENIFMPVFEATINPQADPELSVFLKHITG FDSVDDESKHSGHMFSSKSPKPQEWTLEKNPSYTYYAYYMYANIMVLNSLRKERGMNT FLFRPHCGEAGALTHLMTAFMIADDISHGLNLKKSPVLQYLFFLAQIPIAMSPLSNNS LFLEYAKNPFLDFLQKGLMISLSTDDPMQFHFTKEPLMEEYAIAAQVFKLSTCDMCEV ARNSVLQCGISHEEKVKFLGDNYLEEGPAGNDIRRTNVAQIRMAYRYETWCYELNLIA EGLKSTE" BASE COUNT 675 a 562 c 489 g 615 t ORIGIN 1 ttttatagtg tcagtcagtc accccacagt ctcctctctc ttcttttcta ctgtgctatc 61 ctagaatcaa ggatttcagc aacaatgcct ctgttcaaac tcccagctga agagaaacaa 121 attgatgatg caatgcgcaa ctttgctgaa aaagtgtttg cctctgaagt caaagatgaa 181 ggaggtcgtc aggagatttc cccctttgat gtggatgaga tctgtccgat ttctcatcat 241 gagatgcaag cacacatatt ccatctggag actctgtcca cctccacaga agccaggaga 301 aaaaagcgtt tccaaggacg gaagactgtt aatttgtcca ttccactaag tgaaacatct 361 tccaccaaac tgtcccacat tgatgaatac atttcctcat ctccaaccta ccagaccgtg 421 cctgattttc agagagtgca gattactggt gactatgcct ctggggttac agttgaagat 481 tttgaaattg tttgcaaagg tctgtatcgg gcactatgca tacgtgagaa atacatgcag 541 aagtcgtttc agaggttccc taaaacccct tccaaatact tgcggaacat tgatggtgag 601 gcttgggtag caaatgagag cttctatcca gtctttactc ctcctgtgaa gaagggagag 661 gaccccttcc gaacagacaa ccttcctgaa aacctgggct atcacctcaa aatgaaggac 721 ggtgtagttt acgtctatcc taatgaagca gcagtcagca aagatgagcc taagccactt 781 ccttacccaa atctggacac cttcttagac gatatgaatt ttttacttgc tttaattgct 841 caaggacctg ttaagaccta tacccaccgg cgcctgaagt tcctctcctc caagttccag 901 gtccatcaga tgcttaacga gatggacgag ttaaaggagc tgaaaaacaa cccccaccga 961 gatttttata actgcaggaa ggtggacacc catatccatg cagccgcttg catgaaccag 1021 aaacatctgc tgcgttttat taagaaatct taccaaattg atgctgacag agtggtctat 1081 agcaccaaag agaagaatct gaccctaaag gaactttttg ctaaattaaa aatgcatcct 1141 tatgacctga ctgttgattc tctggatgtt catgctggac gccagacctt ccagcgtttt 1201 gataagttca atgacaaata taatcctgta ggagcaagtg agctacggga cctctacttg 1261 aagacagaca attacattaa tggggaatat tttgccacta tcatcaagga ggtaggtgcg 1321 gacctggtgg aggccaagta ccagcatgct gagccccgcc tgtccatcta tggccgcagt 1381 cctgatgagt ggagcaaact ctcctcctgg ttcgtctgca atcgcatcca ctgccccaac 1441 atgacatgga tgatccaggt tcccaggatc tatgatgtgt tccgttccaa gaatttcctt 1501 ccacattttg gaaaaatgct ggagaatatt ttcatgccag tgtttgaggc caccatcaac 1561 ccccaggctg acccagaact cagtgtcttc ctcaagcata tcactggctt tgacagtgtg 1621 gatgatgagt ccaaacacag tggccacatg ttctcctcca agagtcccaa gccccaggag 1681 tggacattgg aaaagaatcc atcttacact tactatgcct actacatgta tgcaaacatc 1741 atggtgctca acagcctgag aaaggaacga ggcatgaata cgtttctgtt ccgacctcac 1801 tgtggagaag ctggagccct cacccatctc atgacagcat tcatgatagc agatgatatc 1861 tctcatggcc taaatttaaa aaagagtccc gtgctacagt acttgttttt cttagcccaa 1921 attcccatcg ccatgtcacc actaagtaac aatagcctat ttctagagta tgccaaaaat 1981 ccttttttgg atttccttca gaaagggcta atgatctcac tgtctacaga tgacccaatg 2041 caattccact ttaccaagga gcccctaatg gaagaatatg ctattgctgc acaagtcttc 2101 aagctgagca cctgtgatat gtgcgaagtg gcaaggaaca gtgtcttgca gtgtggaatt 2161 tctcatgagg agaaagtaaa gtttctgggc gacaattacc ttgaggaagg ccctgctgga 2221 aatgatatcc ggaggacaaa tgtagcccaa atccgcatgg cctatcgcta tgaaacctgg 2281 tgttatgaac tcaatttaat tgctgagggt cttaaatcaa cagaataaaa aaaagtaaac 2341 c //