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"
/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
//