LOCUS LCAT 7236 bp DNA linear PRI 02-APR-2003 DEFINITION Homo sapiens lecithin-cholesterol acyltransferase (LCAT) gene, complete cds. ACCESSION LCAT VERSION KEYWORDS . SOURCE Homo sapiens ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 7236) AUTHORS Nickerson,D.A., Smith,J.D., Fullerton,S.M., Clark,A.G., Stengard,J.H., Salomaa,V., Boerwinkle,E., Sing,C.F. and Weiss,K.M. TITLE Direct Submission JOURNAL Submitted (02-APR-2003) Genome Sciences, University of Washington, 1705 NE Pacific, Seattle, WA 98195, USA FEATURES Location/Qualifiers source 1..7236 /organism="Homo sapiens" /db_xref="taxon:9606" variation 369 /frequency="0.01" /replace="C" gene 1464..5697 /gene="LCAT" mRNA join(1464..1634,2370..2526,2606..2721,2816..2911, 2995..3219,5103..5697) /gene="LCAT" /product="LCAT" CDS join(1481..1634,2370..2526,2606..2721,2816..2911, 2995..3219,5103..5677) /gene="LCAT" /codon_start=1 /product="lecithin-cholesterol acyltransferase" /translation="MGPPGSPWQWVTLLLGLLLPPAAPFWLLNVLFPPHTTPKAELSN HTRPVILVPGCLGNQLEAKLDKPDVVNWMCYRKTEDFFTIWLDLNMFLPLGVDCWIDN TRVVYNRSSGLVSNAPGVQIRVPGFGKTYSVEYLDSSKLAGYLHTLVQNLVNNGYVRD ETVRAAPYDWRLEPGQQEEYYRKLAGLVEEMHAAYGKPVFLIGHSLGCLHLLYFLLRQ PQAWKDRFIDGFISLGAPWGGSIKPMLVLASGDNQGIPIMSSIKLKEEQRITTTSPWM FPSRMAWPEDHVFISTPSFNYTGRDFQRFFADLHFEEGWYMWLQSRDLLAGLPAPGVE VYCLYGVGLPTPRTYIYDHGFPYTDPVGVLYEDGDDTVATRSTELCGLWQGRQPQPVH LLPLHGIQHLNMVFSNLTLEHINAILLGAYRQGPPASPTASPEPPPPE" misc_feature 1675..1804 /gene="LCAT" /note="Region not scanned for variation" variation 2097 /gene="LCAT" /frequency="0.32" /replace="G" variation 2308 /gene="LCAT" /frequency="0.03" /replace="A" variation 2786 /gene="LCAT" /frequency="0.01" /replace="A" variation 2787 /gene="LCAT" /frequency="0.02" /replace="A" variation 3544 /gene="LCAT" /frequency="0.01" /replace="C" repeat_region 3946..4236 /rpt_family="Alu" /rpt_type=dispersed variation 4226 /gene="LCAT" /frequency="0.01" /replace="C" repeat_region 4249..4554 /rpt_family="Alu" /rpt_type=dispersed variation 4286 /gene="LCAT" /frequency="0.01" /replace="A" repeat_region 4558..4858 /rpt_family="Alu" /rpt_type=dispersed variation 4586 /gene="LCAT" /frequency="0.02" /replace="T" variation 5909 /frequency="0.08" /replace="A" variation 5953 /frequency="0.06" /replace="A" variation 5971 /frequency="0.06" /replace="C" repeat_region 6063..6387 /rpt_family="Alu" /rpt_type=dispersed repeat_region 6601..6904 /rpt_family="Alu" /rpt_type=dispersed misc_feature 6709..6864 /note="Region not scanned for variation" repeat_region 6921..6992 /rpt_family="Alu" /rpt_type=dispersed repeat_region 6993..7230 /rpt_family="Alu" /rpt_type=dispersed BASE COUNT 1501 a 2135 c 2071 g 1529 t ORIGIN 1 ctcgctcgtg caattgtcct caggcccagc tggtcaagga tcggcactcg gccctgcggc 61 tggagagcct gtactcggac gaggaagatg agtctgcagt gggggctgac aagatccaga 121 tgacgtggac cagggacaag tacatgactg agacctggga ccccagccat gcccctgaca 181 atttccggga gctggtgcac attaagccgt gagtgcagca aaaacagccc cagcggcact 241 ggaatctagg ggtggaggtg gggtggggca gacaagtagt gttagatggg ccaggggtgg 301 ggaccctcct tgcaggatgg ctcatggcga cctgtgactg gctacactac gtgtagggac 361 caatccaatg tgcggcgcat gcacactgct gtgaagctca atgaagtcat tgtcacgcgc 421 tcccacgacg cccgcctggt tctcctaaac atgcctggcc cacccaggaa cagtgagggc 481 gacgagaact gtatcccttt gtggagaggc aggcagttgg gaggtggata gcatgggagg 541 tcaagccagc ggcttctctc ctgggcaccc ctgggtgggc atggcccagg tggcccgggt 601 tgcccgttga ttctgttgtt gcctccttga cttgaggccc tgcagacatg gagttcctcg 661 aggtgctgac cgagggcctt gagcgggtgc tgttggtgcg cggtggtggc cgtgaagtca 721 tcaccatcta ctcctgagcc cagtgtcatc ttgtggcctg gagtcgaggt cttggccagg 781 acataacaag ctgtggtctg gggtaacagc ctcttcccag cacccacctg ccagccctgc 841 ttgcctggcc ctgtcctgga cccagctttg ctaggtctcc ttggaaacca ggcctgggcc 901 tcaaaatgga gatggatccc aggtcttgtg ggaccctggg atgtttgggg actttactat 961 ctagcacccc agtaggcctg tcctggccag agaagactgg taggggccga gtggggtttg 1021 aaggcagccg gcccggccca gcccaggagc gctatttatt gcatatttat tgtttggatg 1081 tcaccatcag agacgaaggg aagggtagcc agggagggag tccagcccag ctgcctgcag 1141 gaagatctgg ctcagtctac tatgggcagg gccccccacc aagctgagcc gaatggagac 1201 agctgagctg aggctgaggc ctgacttttt caataaaaca ttgtgtagtt ctgggcctcc 1261 tgctgccccg gctctgtttc ccctggcgcc aagagaagaa ggcggaactg aacccaggcc 1321 cagagccggc tccctgaggc tgtgcccctt tccggcaatc tctggccaca acccccactg 1381 gccaggccgt ccctcccact ggccctaggg ccctcccact cccacaccag ataaggacag 1441 cccagtgccg ctttctctgg cagtaggcac cagggctgga atggggccgc ccggctcccc 1501 atggcagtgg gtgacgctgc tgctggggct gctgctccct cctgccgccc ccttctggct 1561 cctcaatgtg ctcttccccc cgcacaccac gcccaaggct gagctcagta accacacacg 1621 gcccgtcatc ctcggtaagc ccccaccagg cccctgatgc accacgccag accctgggga 1681 gcctgggccc cagcccctgg cagctgacct ggccaaagcc cttctgccct gcataagccc 1741 cgacataagt acctgccctg gtgtggggag gggccaaaag cttgtccctt agaggaatga 1801 cgtcccttct cccaccacac tgtgactctc agttgtctaa cccagggggg gcggagtggg 1861 ggacggggtg tgcctgaggt cttggctggg gcatcacaag ctgtggtcag tcacagccac 1921 accagactct gggccaagcc ccaccactcc ttccttggcc cccacccacc aaggacaaga 1981 tgcccagccc aggatcggtg agcaggagag gcccatccat gcccggcccc tattaggccc 2041 agcccccatg cccccagacc tatctgttcc caccttggac tttggcaata aaggagcgcc 2101 agactgggtg tttgctctgc agaggcaggg gtcagcggcc ttggcctcag cacctcagcg 2161 ccttcccttc ctcagggaag cctgggcttt ggctactggg gggacagcag ggagaggggg 2221 tgtaagcagg ggagggtaag tgtgctttgt acctgggggt tgagggtatg ggaggtgggg 2281 ggtgggtctg gtcactgcag catctggggt gacgggggta agggtcacgg ggggaatcca 2341 gagtccagag tgagggctgc tgctcacagt gcccggctgc ctggggaatc agctagaagc 2401 caagctggac aaaccagatg tggtgaactg gatgtgctac cgcaagacag aggacttctt 2461 caccatctgg ctggatctca acatgttcct accccttggg gtagactgct ggatcgataa 2521 caccaggtac agccatgtgc tccaccctag ccccaacacg ctgccccttg gctactggct 2581 gctgagtggc acccccgccc cgcagggttg tctacaaccg gagctctggg ctcgtgtcca 2641 acgcccctgg tgtccagatc cgcgtccctg gctttggcaa gacctactct gtggagtacc 2701 tggacagcag caagctggca ggtttgtgtc agagggcagg gctggggctc caggcctggg 2761 tgctggccca cagcaggcat ggcccaagcc cccggtgctg ctggtccccc cacagggtac 2821 ctgcacacac tggtgcagaa cctggtcaac aatggctacg tgcgggacga gactgtgcgc 2881 gccgccccct atgactggcg gctggagccc ggtgagtgtc tctgcggatg accggcttgg 2941 ggtggggcag gtgccccaga ccccagctgc cctgacccct tccacccgct gcaggccagc 3001 aggaggagta ctaccgcaag ctcgcagggc tggtggagga gatgcacgct gcctatggga 3061 agcctgtctt cctcattggc cacagcctcg gctgtctaca cttgctctat ttcctgctgc 3121 gccagcccca ggcctggaag gaccgcttta ttgatggctt catctctctt ggggctccct 3181 ggggtggctc catcaagccc atgctggtct tggcctcagg tgagaaggcc tcgaacactt 3241 aggtccagcg atgggtgaga ccaagctgat cctgggcctg ccttcattgc ggctcctgct 3301 cacagtggcc tctaggggtg ctatctacca ctcctgggct ggcatgcttg ctgtcactgg 3361 cccccagagc agtgaccctg gcctgagcaa ttagggtggc tccttccaga gtctgtgtca 3421 gtgatggcaa aggggcagtg aacacagaaa gtgaatccca gctatctgct cccagggttt 3481 gttcttgtag ccccagagcc tgcctgccca gcccttgcct gccttccact tgctcgcagg 3541 agtgcctttg cccagggatg tgcttcactg aggatggatc tgccagagct agggccagac 3601 cccccgaggc cccacctgct cttccctagg gagtggcacc agggcccagc actgacacag 3661 ctaccaccta ctccccaccc cctgtaccct gggagctggt ctggagagag aaacacagtc 3721 tggacaagag aaacgctcat cagacaccac caataaacat caaacagaca ccatcttgtt 3781 tccccctttc tggagcacaa ctctgtggcc cccattgctg cataagccac acaaggagca 3841 gaaagacaca tgcccgaggg aggacagcca gcaccgcccc caccatcccc acacatcctg 3901 ggcctcaccc accatcccca cacaccctgg tcctcaggaa gccccgccta cttttttttt 3961 tctttttcag acagggtcat tctgtcgccc aggctggagt gcagtggcgt gatcatagcc 4021 gcagtctcaa tctccctggc ccaagcaatc ctcctgcctc agcctcctgg ttagctgaga 4081 ctataggcac acaacaccac acctaattta tttttgtttt ttagtagaga tgaggtcttg 4141 ctatgttgcc caggctggtc tcaaactctt caccttaagt gatcttcctg cctcagcctc 4201 ccgaagtgct gggattacag gcgtgagcta ctgtgctggg ccttttaaaa aatgtttatt 4261 tgtttattta tgtattttga gatggagtct cgctctgttt cccaggctgg agtgcagtag 4321 tgcaatctcc actcactgca acctccatct ccccagttca agtgattctt ctgcctcagc 4381 ctccctagta gctaggatca caggcatgtg ccaccacgcc tggctaattt ttatattttt 4441 agtagagatt aggtttcccc atgttggcca ggctggtctc gaactcctga ccttaagtca 4501 tctgcctgcc tcggcctccc aaagtgctag gattacaggt gtgagccacc gtacccggcc 4561 ctatttattt attttttaag ctggaatctc actgtgtcac ccaggctaca gtgcagtggt 4621 gcgatcatag tttactgtaa cctcaaattc ctaggctcaa gcaatcttcc tgcctttgcc 4681 tcctgagtag ctaggactag aggtgcactc cactaagccc agctgatttt tttttttttt 4741 tttttgtaga gacagggtct cactgcattg cctagtctgg tcacggactc ctggcctcaa 4801 gtgatcctcc tgcctcagcc tcccaaagtg ttgggattac aggggtgagc catggtgcct 4861 gtccctgcca tccttttgaa gccctacagc tccacccaac agaggtctta tcagggcttc 4921 tcattgagta agctgacact gagcatcatt gaatatcagg cctgctcaag cctgtggctt 4981 agagtctgtg tctagattgg gcagggacaa gattgagcat ctggctgagc ctacactcag 5041 caggttgtgg gccaggggta gccaggcctg gctccctgtc ccaccttgct ccatatccac 5101 aggtgacaac cagggcatcc ccatcatgtc cagcatcaag ctgaaagagg agcagcgcat 5161 aaccaccacc tccccctgga tgtttccctc tcgcatggcg tggcctgagg accacgtgtt 5221 catttccaca cccagcttca actacacagg ccgtgacttc caacgcttct ttgcagacct 5281 gcactttgag gaaggctggt acatgtggct gcagtcacgt gacctcctgg caggactccc 5341 agcacctggt gtggaagtat actgtcttta cggcgtgggc ctgcccacgc cccgcaccta 5401 catctacgac cacggcttcc cctacacgga ccctgtgggt gtgctctatg aggatggtga 5461 tgacacggtg gcgacccgca gcaccgagct ctgtggcctg tggcagggcc gccagccaca 5521 gcctgtgcac ctgctgcccc tgcacgggat acagcatctc aacatggtct tcagcaacct 5581 gaccctggag cacatcaatg ccatcctgct gggtgcctac cgccagggtc cccctgcatc 5641 cccgactgcc agcccagagc ccccgcctcc tgaataaaga ccttcctttg ctaccgtaag 5701 ccctgatggc tatgtttcag gttgaaggga ggcactagag tcccacacta ggtttcactc 5761 ctcaccagcc acaggctcag tgctgtgtgc agtgaggcaa gatgggctct gctgaggcct 5821 gggactgagc tgggcaccct agatgtacag ctgcccactc tcctggtcga gctgttgagg 5881 cagtgtgcac cgtgcctgcc tctgtgctgg gcgcggggac tggagctggc tccacccaca 5941 gccctgtcag aggagcacgg ggcggtgggg gggcggtgac aatttgagct gtctctccca 6001 gctcccaaaa gggcaggtga gacgaccttt tgagtgctgg gtgaatgaca gggccacaag 6061 tgtttagagg ccgggcacgg tggctcacgc ctgtaatcct ggcactttgg gagaccgagg 6121 caggcggatc acctgaactc aggagtttga gaccagccag gccaacatgg cagaaacccc 6181 cgtctctact aaaatacaaa atatttgcca ggcgtggtgg catgcatctg tcgtcccagc 6241 tactcaggag gctgaggcac gagaatcatt tgaacctggg aggtggaggt cactgtgagc 6301 cgagatcacg tcgttgcact ccagactggg cggcagaatg agactgtctc aaaaaaaaag 6361 agactgggtc tcaaaaaaaa aaaaaaaaaa aaaagttaga attaaaatct gggagtgaca 6421 accattaatc agatcatttc actaatggaa gtttaattac taatgaagct aaatgctctg 6481 agaaaagctt aggaagcaca agaggctgag cctttcaggt cagcaaagac ttcccagagg 6541 aggcagtgcc tacactgagg tcagagtgac aagaagagta atggaccact gtaaagactt 6601 gggttcggcc gggcgcggtg gctcacgcct gtaatcccag cactttggga ggccgaggcg 6661 ggtggatcat gaggtcagga gatcgagacc atcctggcta acaaggtgaa acccgtctct 6721 actaaaaata cagaaaatta gccgggcgcg gtggcgggcg cctgtggtcc cagctactcg 6781 ggaggctgag gcaggagaat ggcgtgaacc cgggaagcgg agcttgccag tgagccgaga 6841 ttgcgccact gcagtccgca gtccggcctg ggcgacagaa gcgagactcc gtctcaaaaa 6901 aaaaaaaaga cttgggtttg acttgattga gcccaggagt tcgagacaag gcctgggcaa 6961 tatagtgaga cctcatctct acaaaaattt taaaaattag cctggtgcgg tggctcatgc 7021 ctgtaatccc agcactctgg gaggccgagg tgggcggatc acttgaggtc agaagtttga 7081 gaccaccctg accaacatgg agaaaccccg tctctactaa aaatacaaaa ttagccgggc 7141 atggtggcgc atgcctgtaa tcccagctac tcgggaggct gaggcaggag aattgtttga 7201 acctgggagg tggacgttgc ggtgagccaa gatcac //