LOCUS       AF057036                2991 bp    mRNA    linear   HUM 05-AUG-1998
DEFINITION  Homo sapiens acetylcholinesterase collagen-like tail subunit (COLQ)
            mRNA, complete cds.
ACCESSION   AF057036
VERSION     AF057036.1
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 2991)
  AUTHORS   Ohno,K., Brengman,J., Tsujino,A. and Engel,A.G.
  TITLE     Human endplate acetylcholinesterase deficiency caused by mutations
            in the collagen-like tail subunit (ColQ) of the asymmetric enzyme
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 95 (16), 9654-9659 (1998)
   PUBMED   9689136
REFERENCE   2  (bases 1 to 2991)
  AUTHORS   Ohno,K., Brengman,J.M., Tsujino,A. and Engel,A.G.
  TITLE     Direct Submission
  JOURNAL   Submitted (01-APR-1998) Neurology Research, Mayo Clinic, 200 1st ST
            SW, Rochester, MN 55905, USA
REFERENCE   3  (bases 1 to 2991)
  AUTHORS   Ohno,K., Brengman,J.M., Tsujino,A. and Engel,A.G.
  TITLE     Direct Submission
  JOURNAL   Submitted (03-AUG-1998) Neurology Research, Mayo Clinic, 200 1st ST
            SW, Rochester, MN 55905, USA
  REMARK    Sequence update by submitter
FEATURES             Location/Qualifiers
     source          1..2991
                     /db_xref="H-InvDB:HIT000064741"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25"
                     /note="similar to IMAGE256122, IMAGE278732, IMAGE359803
                     and IMAGE206808 which maps to STS sequence WI-17996 found
                     in GenBank Accession Number G21300"
     gene            1..2991
                     /gene="COLQ"
     CDS             127..1494
                     /gene="COLQ"
                     /note="ColQ; human endplate acetylcholinesterase
                     deficiency caused by mutations in this subunit"
                     /codon_start=1
                     /product="acetylcholinesterase collagen-like tail subunit"
                     /protein_id="AAC39927.1"
                     /db_xref="GI:3378118"
                     /translation="MVVLNPMTLGIYLQLFFLSIVSQPTFINSVLPISAALPSLDQKK
                     RGGHKACCLLTPPPPPLFPPPFFRGGRSPLLSPDMKNLMLELETSQSPCMQGSLGSPG
                     PPGPQGPPGLPGKTGPKGEKGELGRPGRKGRPGPPGVPGMPGPIGWPGPEGPRGEKGD
                     LGMMGLPGSRGPMGSKGYPGSRGEKGSRGEKGDLGPKGEKGFPGFPGMLGQKGEMGPK
                     GEPGIAGHRGPTGRPGKRGKQGQKGDSGVMGPPGKPGPSGQPGRPGPPGPPPAGQLIM
                     GPKGERGFPGPPGRCLCGPTMNVNNPSYGESVYGPSSPRVPVIFVVNNQEELERLNTQ
                     NAIAFRRDQRSLYFKDSLGWLPIQLTPFYPVDYTADQHGTCGDGLLQPGEECDDGNSD
                     VGDDCIRCHRAYCGDGHRHEGVEDCDGSDFGYLTCETYLPGSYGDLQCTQYCYIDSTP
                     CRYFT"
     variation       233..447
                     /gene="COLQ"
                     /note="107del215"
                     /replace=""
     variation       632
                     /gene="COLQ"
                     /note="S169X"
                     /replace="g"
     variation       766
                     /gene="COLQ"
                     /note="E214X"
                     /replace="t"
     variation       915^916
                     /gene="COLQ"
                     /note="788insC"
                     /replace="c"
     variation       970
                     /gene="COLQ"
                     /note="R282X"
                     /replace="t"
     variation       1208
                     /gene="COLQ"
                     /note="1082delC"
                     /replace=""
     variation       1838
                     /gene="COLQ"
                     /note="allelic frequency of polymorphic nucleotide is
                     9/16"
                     /replace="c"
     variation       1859
                     /gene="COLQ"
                     /note="allelic frequency of polymorphic nucleotide is
                     10/16"
                     /replace="a"
     variation       2495
                     /gene="COLQ"
                     /note="allelic frequency of polymorphic nucleotide is
                     11/16"
                     /replace="a"
     variation       2889
                     /gene="COLQ"
                     /note="allelic frequency of polymorphic nucleotide is
                     8/12"
                     /replace="c"
     polyA_signal    2975..2980
                     /gene="COLQ"
     polyA_signal    2983..2988
                     /gene="COLQ"
BASE COUNT          671 a          867 c          796 g          657 t
ORIGIN      
        1 cacacgcaca cacacacaca caaacacacg cgcacgcaaa cagcagtgag gaagagaaaa
       61 gcagagataa gcaaggctcc gcagcagcct cctttctaac ttgaccctcg ccagaccctg
      121 gccagcatgg ttgtcctgaa tccaatgact ttgggaattt atcttcagct tttcttcctc
      181 tctatcgtgt ctcagccgac tttcatcaac agcgttcttc caatctcagc agcccttccc
      241 agcctggatc agaagaagcg tggtggccac aaagcatgct gcctgctgac gcctcctcca
      301 ccaccactgt tcccaccacc attcttcaga ggtggccgaa gtccgcttct ctccccagac
      361 atgaagaatc tcatgctgga actggagacc tcgcagtccc cgtgcatgca aggctcgcta
      421 ggctcccctg ggcctcccgg cccccagggt ccaccggggc ttcctggcaa gacaggacca
      481 aagggagaaa agggggagct tggccgacca ggaaggaagg gtagacctgg ccccccaggt
      541 gttcctggca tgcctgggcc catcggttgg ccaggccctg aaggacccag gggtgaaaaa
      601 ggtgacctgg gtatgatggg cttgccaggg tcaagaggac caatgggctc caagggctac
      661 cctggatcca gaggggaaaa gggatccaga ggtgaaaagg gtgacctggg tcccaaagga
      721 gaaaagggtt tcccaggatt tcctggaatg ttggggcaga aaggtgaaat gggtccaaaa
      781 ggtgaacctg ggatagcagg acaccgagga cccacaggaa gaccaggaaa acgaggcaag
      841 cagggacaga aaggggatag tggagttatg ggcccaccag gcaagcctgg gccttctggt
      901 caacctggcc gtccggggcc cccaggcccc ccacctgcag gacaacttat aatgggaccc
      961 aaaggggaaa gaggatttcc cgggcctcca ggaagatgtc tttgtggacc cactatgaat
     1021 gtgaataacc cttcctacgg ggaatctgtg tatgggccca gttccccgcg agttcctgtg
     1081 atttttgtgg tcaacaacca ggaggagctt gagaggctga acacccaaaa cgccattgcc
     1141 ttccgcagag accagagatc tctgtacttc aaggacagcc ttggctggct ccccatccag
     1201 ctgacccctt tctaccctgt ggattacact gcagaccagc acggcacctg tggggatggg
     1261 ctcctgcagc ctggggagga gtgtgacgac ggtaacagcg atgtgggtga cgactgcatc
     1321 cgctgtcacc gtgcctactg tggagatggt caccggcatg agggtgtgga ggactgtgac
     1381 ggctctgact ttggctacct gacatgcgag acctatctcc ctgggtcata tggagacctg
     1441 caatgcaccc agtactgcta catcgactcc acgccctgcc gctacttcac ctgagggccg
     1501 tgaggagaag gtgggctgcg ccccacagaa ctggcagcag cttctccact gtcatcaaac
     1561 tggccatgtc ctggccccgt ctccaccaac ctttgtgtga caaaaacaag gacaaattcc
     1621 tgctactaag acatgctgtt aactcagtct gactggaaga atttaggacc actgcatcct
     1681 gtcttaatcc aaggtactgg aaaaccttcc acatgcccaa cctgagacct gttccccatc
     1741 gctaccattt ggccaaacaa ccggctacaa tgctcttcct cttctggaat gttgctgacc
     1801 caggccgtgg acttggctga gcactgttag acacacatag acctgcaggc tgttttagta
     1861 tgttttgatc tctttgggga atctggagta caggcctctc cgcccctgac caccgaaacg
     1921 tgcaggcatt ctcactcaca ctgggcagcc cgctgtcggg tctctctagg cctatgaacc
     1981 acaaagcagg gaagtgggca cgttctctcg gggtggctca cagctttgaa cctgccaaag
     2041 gacccctcga ctggccacag cccagcccag cctgacgtgg atgtggctgc ccaggaaaag
     2101 acttaactgt gaaaaagtac tgagaaccca cctgacccag gcttgcccca agcagaggct
     2161 agagaagagg ctcctcttct cagtgtttcc caaaggggcg gctcttgtgg tttcaaaatc
     2221 tctggcacca tcttgacctc ttggctctct ctgcactttg ccccctgtct caaaaatgtc
     2281 cctcatgtcc atttcctgtc caggagactc atgaggactg tgtgacctgc acaagcccac
     2341 acctgggcag gctgttggtg tctccttggt ccttaggcag atactcccct gagtccccga
     2401 tctagggcca gctgcagagg gctctctcta ggcagagcgt tcctggccag agctctacct
     2461 ctttgcctcc tgctgacccc tgacagcgtc ccgtggcatt tctttcatgt ctgcatattg
     2521 catagccttg tcctcctgtg tgcctgagct cctccctttt caataagatt attagtcgtg
     2581 catgtctgtg agctgccttt catcaccatt tttcctgagt agggcttagt tttattctgg
     2641 aaagacatct ccaaggtgag gtccaccccc acagcagacc tcaagtagaa attgcccaat
     2701 ttttaccagc tggagggaca cccttgggtt tttgtacgaa gctatttaat gagcctgtgt
     2761 cttggggact cagcaggctg gagcttgggg cctggtggac catcacctgg tgtctgtagg
     2821 tggacccggt ctcccacagg tgacatcaac ctgagggtgg cgtctttaga gacaggcaca
     2881 tgggcagctc tgttcccttc gcctctactg cgaggcctgg ggagatgttg ttttcatgct
     2941 gcttccacca tcacactggg gtttctggat gggaaataaa aaaataaagg c
//