LOCUS       AF305907                2458 bp    mRNA    linear   HUM 16-FEB-2001
DEFINITION  Homo sapiens choline acetyltransferase isoform M mRNA, complete
            cds, alternatively spliced.
ACCESSION   AF305907
VERSION     AF305907.1
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 2458)
  AUTHORS   Ohno,K., Tsujino,A., Brengman,J.M., Harper,C.M., Bajzer,Z., Udd,B.,
            Beyring,R., Robb,S., Kirkham,F.J. and Engel,A.G.
  TITLE     Choline acetyltransferase mutations cause myasthenic syndrome
            associated with episodic apnea in humans
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 98 (4), 2017-2022 (2001)
   PUBMED   11172068
REFERENCE   2  (bases 1 to 2458)
  AUTHORS   Ohno,K., Tsujino,A. and Engel,A.G.
  TITLE     Direct Submission
  JOURNAL   Submitted (15-SEP-2000) Department of Neurology, Mayo Clinic, 200
            1st ST SW, Rochester, MN 55905, USA
FEATURES             Location/Qualifiers
     source          1..2458
                     /db_xref="H-InvDB:HIT000076807"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     CDS             154..2400
                     /note="alternatively spliced"
                     /codon_start=1
                     /product="choline acetyltransferase isoform M"
                     /protein_id="AAK08953.1"
                     /db_xref="GI:12837525"
                     /translation="MGLRTAKKRGLGGGGKWKREEGGGTRGRREVRPACFLQSGGRGD
                     PGDVGGPAGNPGCSPHPRAATRPPPLPAHTPAHTPEWCGAASAEAAEPRRAGPHLCIP
                     APGLTKTPILEKVPRKMAAKTPSSEESGLPKLPVPPLQQTLATYLQCMRHLVSEEQFR
                     KSQAIVQQFGAPGGLGETLQQKLLERQEKTANWVSEYWLNDMYLNNRLALPVNSSPAV
                     IFARQHFPGTDDQLRFAASLISGVLSYKALLDSHSIPTDCAKGQLSGQPLCMKQYYGL
                     FSSYRLPGHTQDTLVAQNSSIMPEPEHVIVACCNQFFVLDVVINFRRLSEGDLFTQLR
                     KIVKMASNEDERLPPIGLLTSDGRSEWAEARTVLVKDSTNRDSLDMIERCICLVCLDA
                     PGGVELSDTHRALQLLHGGGYSKNGANRWYDKSLQFVVGRDGTCGVVCEHSPFDGIVL
                     VQCTEHLLKHMTQSSRKLIRADSVSELPAPRRLRWKCSPEIQGHLASSAEKLQRIVKN
                     LDFIVYKFDNYGKTFIKKQKCSPDAFIQVALQLAFYRLHRRLVPTYESASIRRFQEGR
                     VDNIRSATPEALAFVRAVTDHKAAVPASEKLLLLKDAIRAQTAYTVMAITGMAIDNHL
                     LALRELARAMCKELPEMFMDETYLMSNRFVLSTSQVPTTTEMFCCYGPVVPNGYGACY
                     NPQPETILFCISSFHSCKETSSSKFAKAVEESLIDMRDLCSLLPPTESKPLATKEKAT
                     RPSQGHQP"
     variation       934..937
                     /note="CCGG in 22 individuals sequenced; compared to
                     sequence in Oda, et al, Brain Res. Mol. Brain Res. 16,
                     287-294 (1992)"
                     /replace="ggcc"
     variation       1328..1329
                     /note="CG in 22 individuals sequenced; compared to
                     sequence in Oda, et al, Brain Res. Mol. Brain Res. 16,
                     287-294 (1992)"
                     /replace="gc"
     variation       1454
                     /note="G in 22 individuals sequenced; compared to sequence
                     in Oda, et al, Brain Res. Mol. Brain Res. 16, 287-294
                     (1992)"
                     /replace=""
BASE COUNT          544 a          745 c          717 g          452 t
ORIGIN      
        1 aaatgctgag ctaggggcag gaggcatggg cgggacagtg ttctgtgccc ccttctagag
       61 cctaaatttg ttgcccgagt tcctccggga agcgctccgg gtagattctc ggggccggga
      121 gctgagatcc ctgggcgggg agcgggggaa gggatggggc tgaggacagc gaagaagagg
      181 gggcttgggg gaggggggaa atggaagaga gaggagggag gaggtacaag aggaaggaga
      241 gaagtgcggc cagcttgctt tctccagtcg ggtggccgcg gggacccggg cgacgtcgga
      301 ggccctgccg ggaacccagg ctgcagcccc cacccccgcg ctgcgacacg ccccccaccc
      361 cttccggctc acacccccgc ccacactcct gagtggtgcg gtgcagcgtc ggccgaggca
      421 gcagagccga ggagagcagg tccacacctc tgcatccctg caccaggact caccaagacg
      481 cccatcctgg aaaaggtccc ccgtaagatg gcagcaaaaa ctcccagcag tgaggagtct
      541 gggctgccca aactgcccgt gcccccgctg cagcagaccc tggccacgta cctgcagtgc
      601 atgcgacact tggtgtctga ggagcagttc aggaagagcc aggccattgt gcagcagttt
      661 ggggcccctg gtggcctcgg cgagaccctg cagcagaaac tcctggagcg gcaggagaag
      721 acagccaact gggtgtctga gtactggctg aatgacatgt atctcaacaa ccgcctggcc
      781 ctgcctgtca actccagccc tgccgtgatc tttgctcggc agcacttccc tggcaccgat
      841 gaccagctga ggtttgcagc cagcctcatc tctggtgtac tcagctacaa ggccctgctg
      901 gacagccact ccattcccac tgactgtgcc aaaggccagc tgtcagggca gcccctttgc
      961 atgaagcaat actatgggct cttctcctcc taccggctcc ccggccatac ccaggacacg
     1021 ctggtggctc agaacagcag catcatgccg gagcctgagc acgtcatcgt agcctgctgc
     1081 aatcagttct ttgtcttgga tgttgtcatt aatttccgcc gtctcagtga gggggatctg
     1141 ttcactcagt tgagaaagat agtcaaaatg gcttccaacg aggacgagcg tttgcctcca
     1201 attggcctgc tgacgtctga cgggaggagc gagtgggccg aggccaggac ggtcctcgtg
     1261 aaagactcca ccaaccggga ctcgctggac atgattgagc gctgcatctg ccttgtatgc
     1321 ctggacgcgc caggaggcgt ggagctcagc gacacccaca gggcactcca gctccttcac
     1381 ggcggaggct acagcaagaa cggggccaat cgctggtacg acaagtccct gcagtttgtg
     1441 gtgggccgag acggcacctg cggtgtggtg tgcgaacact ccccattcga tggcatcgtc
     1501 ctggtgcagt gcactgagca tctgctcaag cacatgacgc agagcagcag gaagctgatc
     1561 cgagcagact ccgtcagcga gctccccgcc ccccggaggc tgcggtggaa atgctccccg
     1621 gaaattcaag gccacttagc ctcctcggca gaaaaacttc aacgaatagt aaagaacctt
     1681 gacttcattg tctataagtt tgacaactat gggaaaacat tcattaagaa gcagaaatgc
     1741 agccctgatg ccttcatcca ggtggccctc cagctggcct tctacaggct ccaccgaaga
     1801 ctggtgccca cctacgagag cgcgtccatc cgccgattcc aggagggacg cgtggacaac
     1861 atcagatcgg ccactccaga ggcactggct tttgtgagag ccgtgactga ccacaaggct
     1921 gctgtgccag cttctgagaa gcttctgctc ctgaaggatg ccatccgtgc ccagactgca
     1981 tacacagtca tggccataac agggatggcc attgacaacc acctgctggc actgcgggag
     2041 ctggcccggg ccatgtgcaa ggagctgccc gagatgttca tggatgaaac ctacctgatg
     2101 agcaaccggt ttgtcctctc cactagccag gtgcccacaa ccacggagat gttctgctgc
     2161 tatggtcctg tggtcccaaa tgggtatggt gcctgctaca acccccagcc agagaccatc
     2221 cttttctgca tctctagctt tcacagctgc aaagagactt cttctagcaa gtttgcaaaa
     2281 gctgtggaag aaagcctcat tgacatgaga gacctctgca gtctgctgcc gcctactgag
     2341 agcaagccat tggcaacaaa ggaaaaagcc acgaggccca gccagggaca ccaaccttga
     2401 ctcctgccac taggtttcac ctcccaaacc cagcctctag aacagccaga ccctgcag
//