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"
/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"
regulatory 2975..2980
/regulatory_class="polyA_signal_sequence"
/gene="COLQ"
regulatory 2983..2988
/regulatory_class="polyA_signal_sequence"
/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
//