LOCUS AY792511 7584 bp mRNA linear HUM 15-NOV-2004
DEFINITION Homo sapiens leucine-rich repeat kinase 2 (LRRK2) mRNA, complete
cds.
ACCESSION AY792511
VERSION AY792511.1
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 7584)
AUTHORS Zimprich,A., Biskup,S., Leitner,P., Lichtner,P., Farrer,M.,
Lincoln,S., Kachergus,J., Hulihan,M., Uitti,R.J., Calne,D.B.,
Stoessl,J., Pfeiffer,R.F., Patenge,N., Carballo,I., Vieregge,P.,
Asmus,F., Mueller-Myhsok,B., Meitinger,T., Strom,T.M., Wszolek,Z.
and Gasser,T.
TITLE Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with
Pleomorphic Pathology
JOURNAL Neuron 44 (4), 601-607 (2004)
PUBMED 15541309
REFERENCE 2 (bases 1 to 7584)
AUTHORS Zimprich,A., Biskup,S. and Strom,T.M.
TITLE Direct Submission
JOURNAL Submitted (22-OCT-2004) Institute of Human Genetics, Technical
University and GSF Research Center, Ingolstaedter Landstr. 1,
Muenchen/Neuherberg 85764, Germany
FEATURES Location/Qualifiers
source 1..7584
/db_xref="H-InvDB:HIT000257811"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="12"
/map="12q12"
/tissue_type="brain"
/dev_stage="adult"
gene 1..7584
/gene="LRRK2"
CDS 1..7584
/gene="LRRK2"
/codon_start=1
/product="leucine-rich repeat kinase 2"
/protein_id="AAV63975.1"
/translation="MASGSCQGCEEDEETLKKLIVRLNNVQEGKQIETLVQILEDLLV
FTYSEHASKLFQGKNIHVPLLIVLDSYMRVASVQQVGWSLLCKLIEVCPGTMQSLMGP
QDVGNDWEVLGVHQLILKMLTVHNASVNLSVIGLKTLDLLLTSGKITLLILDEESDIF
MLIFDAMHSFPANDEVQKLGCKALHVLFERVSEEQLTEFVENKDYMILLSASTNFKDE
EEIVLHVLHCLHSLAIPCNNVEVLMSGNVRCYNIVVEAMKAFPMSERIQEVSCCLLHR
LTLGNFFNILVLNEVHEFVVKAVQQYPENAALQISALSCLALLTETIFLNQDLEEKNE
NQENDDEGEEDKLFWLEACYKALTWHRKNKHVQEAACWALNNLLMYQNSLHEKIGDED
GHFPAHREVMLSMLMHSSSKEVFQASANALSTLLEQNVNFRKILLSKGIHLNVLELMQ
KHIHSPEVAESGCKMLNHLFEGSNTSLDIMAAVVPKILTVMKRHETSLPVQLEALRAI
LHFIVPGMPEESREDTEFHHKLNMVKKQCFKNDIHKLVLAALNRFIGNPGIQKCGLKV
ISSIVHFPDALEMLSLEGAMDSVLHTLQMYPDDQEIQCLGLSLIGYLITKKNVFIGTG
HLLAKILVSSLYRFKDVAEIQTKGFQTILAILKLSASFSKLLVHHSFDLVIFHQMSSN
IMEQKDQQFLNLCCKCFAKVAMDDYLKNVMLERACDQNNSIMVECLLLLGADANQAKE
GSSLICQVCEKESSPKLVELLLNSGSREQDVRKALTISIGKGDSQIISLLLRRLALDV
ANNSICLGGFCIGKVEPSWLGPLFPDKTSNLRKQTNIASTLARMVIRYQMKSAVEEGT
ASGSDGNFSEDVLSKFDEWTFIPDSSMDSVFAQSDDLDSEGSEGSFLVKKKSNSISVG
EFYRDAVLQRCSPNLQRHSNSLGPIFDHEDLLKRKRKILSSDDSLRSSKLQSHMRHSD
SISSLASEREYITSLDLSANELRDIDALSQKCCISVHLEHLEKLELHQNALTSFPQQL
CETLKSLTHLDLHSNKFTSFPSYLLKMSCIANLDVSRNDIGPSVVLDPTVKCPTLKQF
NLSYNQLSFVPENLTDVVEKLEQLILEGNKISGICSPLRLKELKILNLSKNHISSLSE
NFLEACPKVESFSARMNFLAAMPFLPPSMTILKLSQNKFSCIPEAILNLPHLRSLDMS
SNDIQYLPGPAHWKSLNLRELLFSHNQISILDLSEKAYLWSRVEKLHLSHNKLKEIPP
EIGCLENLTSLDVSYNLELRSFPNEMGKLSKIWDLPLDELHLNFDFKHIGCKAKDIIR
FLQQRLKKAVPYNRMKLMIVGNTGSGKTTLLQQLMKTKKSDLGMQSATVGIDVKDWPI
QIRDKRKRDLVLNVWDFAGREEFYSTHPHFMTQRALYLAVYDLSKGQAEVDAMKPWLF
NIKARASSSPVILVGTHLDVSDEKQRKACMSKITKELLNKRGFPAIRDYHFVNATEES
DALAKLRKTIINESLNFKIRDQLVVGQLIPDCYVELEKIILSERKNVPIEFPVIDRKR
LLQLVRENQLQLDENELPHAVHFLNESGVLLHFQDPALQLSDLYFVEPKWLCKIMAQI
LTVKVEGCPKHPKGIISRRDVEKFLSKKRKFPKNYMSQYFKLLEKFQIALPIGEEYLL
VPSSLSDHRPVIELPHCENSEIIIRLYEMPYFPMGFWSRLINRLLEISPYMLSGRERA
LRPNRMYWRQGIYLNWSPEAYCLVGSEVLDNHPESFLKITVPSCRKGCILLGQVVDHI
DSLMEEWFPGLLEIDICGEGETLLKKWALYSFNDGEEHQKILLDDLMKKAEEGDLLVN
PDQPRLTIPISQIAPDLILADLPRNIMLNNDELEFEQAPEFLLGDGSFGSVYRAAYEG
EEVAVKIFNKHTSLRLLRQELVVLCHLHHPSLISLLAAGIRPRMLVMELASKGSLDRL
LQQDKASLTRTLQHRIALHVADGLRYLHSAMIIYRDLKPHNVLLFTLYPNAAIIAKIA
DYGIAQYCCRMGIKTSEGTPGFRAPEVARGNVIYNQQADVYSFGLLLYDILTTGGRIV
EGLKFPNEFDELEIQGKLPDPVKEYGCAPWPMVEKLIKQCLKENPQERPTSAQVFDIL
NSAELVCLTRRILLPKNVIVECMVATHHNSRNASIWLGCGHTDRGQLSFLDLNTEGYT
SEEVADSRILCLALVHLPVEKESWIVSGTQSGTLLVINTEDGKKRHTLEKMTDSVTCL
YCNSFSKQSKQKNFLLVGTADGKLAIFEDKTVKLKGAAPLKILNIGNVSTPLMCLSES
TNSTERNVMWGGCGTKIFSFSNDFTIQKLIETRTSQLFSYAAFSDSNIITVVVDTALY
IAKQNSPVVEVWDKKTEKLCGLIDCVHFLREVMVKENKESKHKMSYSGRVKTLCLQKN
TALWIGTGGGHILLLDLSTRRLIRVIYNFCNSVRVMMTAQLGSLKNVMLVLGYNRKNT
EGTQKQKEIQSCLTVWDINLPHEVQNLEKHIEVRKELAEKMRRTSVE"
misc_difference 149
/gene="LRRK2"
/note="compared to genome assembly"
/replace="g"
variation 3364
/gene="LRRK2"
/note="I1122V"
/phenotype="PARK8"
/replace="g"
variation 4321
/gene="LRRK2"
/note="R1441C"
/phenotype="PARK8"
/replace="t"
variation 5096
/gene="LRRK2"
/note="Y1699C"
/phenotype="PARK8"
/replace="g"
variation 5457
/gene="LRRK2"
/note="nonsynonymous SNP"
/replace="t"
BASE COUNT 2359 a 1400 c 1653 g 2172 t
ORIGIN
1 atggctagtg gcagctgtca ggggtgcgaa gaggacgagg aaactctgaa gaagttgata
61 gtcaggctga acaatgtcca ggaaggaaaa cagatagaaa cgctggtcca aatcctggag
121 gatctgctgg tgttcacgta ctccgagcac gcctccaagt tatttcaagg caaaaatatc
181 catgtgcctc tgttgatcgt cttggactcc tatatgagag tcgcgagtgt gcagcaggtg
241 ggttggtcac ttctgtgcaa attaatagaa gtctgtccag gtacaatgca aagcttaatg
301 ggaccccagg atgttggaaa tgattgggaa gtccttggtg ttcaccaatt gattcttaaa
361 atgctaacag ttcataatgc cagtgtaaac ttgtcagtga ttggactgaa gaccttagat
421 ctcctcctaa cttcaggtaa aatcaccttg ctgatactgg atgaagaaag tgatattttc
481 atgttaattt ttgatgccat gcactcattt ccagccaatg atgaagtcca gaaacttgga
541 tgcaaagctt tacatgtgct gtttgagaga gtctcagagg agcaactgac tgaatttgtt
601 gagaacaaag attatatgat attgttaagt gcgtcaacaa attttaaaga tgaagaggaa
661 attgtgcttc atgtgctgca ttgtttacat tccctagcga ttccttgcaa taatgtggaa
721 gtcctcatga gtggcaatgt caggtgttat aatattgtgg tggaagctat gaaagcattc
781 cctatgagtg aaagaattca agaagtgagt tgctgtttgc tccataggct tacattaggt
841 aattttttca atatcctggt attaaacgaa gtccatgagt ttgtggtgaa agctgtgcag
901 cagtacccag agaatgcagc attgcagatc tcagcgctca gctgtttggc cctcctcact
961 gagactattt tcttaaatca agatttagag gaaaagaatg agaatcaaga gaatgatgat
1021 gagggggaag aagataaatt gttttggctg gaagcctgtt acaaagcatt aacgtggcat
1081 agaaagaaca agcacgtgca ggaggccgca tgctgggcac taaataatct ccttatgtac
1141 caaaacagtt tacatgagaa gattggagat gaagatggcc atttcccagc tcatagggaa
1201 gtgatgctct ccatgctgat gcattcttca tcaaaggaag ttttccaggc atctgcgaat
1261 gcattgtcaa ctctcttaga acaaaatgtt aatttcagaa aaatactgtt atcaaaagga
1321 atacacctga atgttttgga gttaatgcag aagcatatac attctcctga agtggctgaa
1381 agtggctgta aaatgctaaa tcatcttttt gaaggaagca acacttccct ggatataatg
1441 gcagcagtgg tccccaaaat actaacagtt atgaaacgtc atgagacatc attaccagtg
1501 cagctggagg cgcttcgagc tattttacat tttatagtgc ctggcatgcc agaagaatcc
1561 agggaggata cagaatttca tcataagcta aatatggtta aaaaacagtg tttcaagaat
1621 gatattcaca aactggtcct agcagctttg aacaggttca ttggaaatcc tgggattcag
1681 aaatgtggat taaaagtaat ttcttctatt gtacattttc ctgatgcatt agagatgtta
1741 tccctggaag gtgctatgga ttcagtgctt cacacactgc agatgtatcc agatgaccaa
1801 gaaattcagt gtctgggttt aagtcttata ggatacttga ttacaaagaa gaatgtgttc
1861 ataggaactg gacatctgct ggcaaaaatt ctggtttcca gcttataccg atttaaggat
1921 gttgctgaaa tacagactaa aggatttcag acaatcttag caatcctcaa attgtcagca
1981 tctttttcta agctgctggt gcatcattca tttgacttag taatattcca tcaaatgtct
2041 tccaatatca tggaacaaaa ggatcaacag tttctaaacc tctgttgcaa gtgttttgca
2101 aaagtagcta tggatgatta cttaaaaaat gtgatgctag agagagcgtg tgatcagaat
2161 aacagcatca tggttgaatg cttgcttcta ttgggagcag atgccaatca agcaaaggag
2221 ggatcttctt taatttgtca ggtatgtgag aaagagagca gtcccaaatt ggtggaactc
2281 ttactgaata gtggatctcg tgaacaagat gtacgaaaag cgttgacgat aagcattggg
2341 aaaggtgaca gccagatcat cagcttgctc ttaaggaggc tggccctgga tgtggccaac
2401 aatagcattt gccttggagg attttgtata ggaaaagttg aaccttcttg gcttggtcct
2461 ttatttccag ataagacttc taatttaagg aaacaaacaa atatagcatc tacactagca
2521 agaatggtga tcagatatca gatgaaaagt gctgtggaag aaggaacagc ctcaggcagc
2581 gatggaaatt tttctgaaga tgtgctgtct aaatttgatg aatggacctt tattcctgac
2641 tcttctatgg acagtgtgtt tgctcaaagt gatgacctgg atagtgaagg aagtgaaggc
2701 tcatttcttg tgaaaaagaa atctaattca attagtgtag gagaatttta ccgagatgcc
2761 gtattacagc gttgctcacc aaatttgcaa agacattcca attccttggg gcccattttt
2821 gatcatgaag atttactgaa gcgaaaaaga aaaatactat cttcagatga ttcactcagg
2881 tcatcaaaac ttcaatccca tatgaggcat tcagacagca tttcttctct ggcttctgag
2941 agagaatata ttacatcact agacctttca gcaaatgaac taagagatat tgatgcccta
3001 agccagaaat gctgtataag tgttcatttg gagcatcttg aaaagctgga gcttcaccag
3061 aatgcactca cgagctttcc acaacagcta tgtgaaactc tgaagagttt gacacatttg
3121 gacttgcaca gtaataaatt tacatcattt ccttcttatt tgttgaaaat gagttgtatt
3181 gctaatcttg atgtctctcg aaatgacatt ggaccctcag tggttttaga tcctacagtg
3241 aaatgtccaa ctctgaaaca gtttaacctg tcatataacc agctgtcttt tgtacctgag
3301 aacctcactg atgtggtaga gaaactggag cagctcattt tagaaggaaa taaaatatca
3361 gggatatgct cccccttgag actgaaggaa ctgaagattt taaaccttag taagaaccac
3421 atttcatccc tatcagagaa ctttcttgag gcttgtccta aagtggagag tttcagtgcc
3481 agaatgaatt ttcttgctgc tatgcctttc ttgcctcctt ctatgacaat cctaaaatta
3541 tctcagaaca aattttcctg tattccagaa gcaattttaa atcttccaca cttgcggtct
3601 ttagatatga gcagcaatga tattcagtac ctaccaggtc ccgcacactg gaaatctttg
3661 aacttaaggg aactcttatt tagccataat cagatcagca tcttggactt gagtgaaaaa
3721 gcatatttat ggtctagagt agagaaactg catctttctc acaataaact gaaagagatt
3781 cctcctgaga ttggctgtct tgaaaatctg acatctctgg atgtcagtta caacttggaa
3841 ctaagatcct ttcccaatga aatggggaaa ttaagcaaaa tatgggatct tcctttggat
3901 gaactgcatc ttaactttga ttttaaacat ataggatgta aagccaaaga catcataagg
3961 tttcttcaac agcgattaaa aaaggctgtg ccttataacc gaatgaaact tatgattgtg
4021 ggaaatactg ggagtggtaa aaccacctta ttgcagcaat taatgaaaac caagaaatca
4081 gatcttggaa tgcaaagtgc cacagttggc atagatgtga aagactggcc tatccaaata
4141 agagacaaaa gaaagagaga tctcgtccta aatgtgtggg attttgcagg tcgtgaggaa
4201 ttctatagta ctcatcccca ttttatgacg cagcgagcat tgtaccttgc tgtctatgac
4261 ctcagcaagg gacaggctga agttgatgcc atgaagcctt ggctcttcaa tataaaggct
4321 cgcgcttctt cttcccctgt gattctcgtt ggcacacatt tggatgtttc tgatgagaag
4381 caacgcaaag cctgcatgag taaaatcacc aaggaactcc tgaataagcg agggttccct
4441 gccatacgag attaccactt tgtgaatgcc accgaggaat ctgatgcttt ggcaaaactt
4501 cggaaaacca tcataaacga gagccttaat ttcaagatcc gagatcagct tgttgttgga
4561 cagctgattc cagactgcta tgtagaactt gaaaaaatca ttttatcgga gcgtaaaaat
4621 gtgccaattg aatttcccgt aattgaccgg aaacgattat tacaactagt gagagaaaat
4681 cagctgcagt tagatgaaaa tgagcttcct cacgcagttc actttctaaa tgaatcagga
4741 gtccttcttc attttcaaga cccagcactg cagttaagtg acttgtactt tgtggaaccc
4801 aagtggcttt gtaaaatcat ggcacagatt ttgacagtga aagtggaagg ttgtccaaaa
4861 caccctaagg gcattatttc gcgtagagat gtggaaaaat ttctttcaaa aaaaaggaaa
4921 tttccaaaga actacatgtc acagtatttt aagctcctag aaaaattcca gattgctttg
4981 ccaataggag aagaatattt gctggttcca agcagtttgt ctgaccacag gcctgtgata
5041 gagcttcccc attgtgagaa ctctgaaatt atcatccgac tatatgaaat gccttatttt
5101 ccaatgggat tttggtcaag attaatcaat cgattacttg agatttcacc ttacatgctt
5161 tcagggagag aacgagcact tcgcccaaac agaatgtatt ggcgacaagg catttactta
5221 aattggtctc ctgaagctta ttgtctggta ggatctgaag tcttagacaa tcatccagag
5281 agtttcttaa aaattacagt tccttcttgt agaaaaggct gtattctttt gggccaagtt
5341 gtggaccaca ttgattctct catggaagaa tggtttcctg ggttgctgga gattgatatt
5401 tgtggtgaag gagaaactct gttgaagaaa tgggcattat atagttttaa tgatggcgaa
5461 gaacatcaaa aaatcttact tgatgacttg atgaagaaag cagaggaagg agatctctta
5521 gtaaatccag atcaaccaag gctcaccatt ccaatatctc agattgcccc tgacttgatt
5581 ttggctgacc tgcctagaaa tattatgttg aataatgatg agttggaatt tgaacaagct
5641 ccagagtttc tcctaggtga tggcagtttt ggatcagttt accgagcagc ctatgaagga
5701 gaagaagtgg ctgtgaagat ttttaataaa catacatcac tcaggctgtt aagacaagag
5761 cttgtggtgc tttgccacct ccaccacccc agtttgatat ctttgctggc agctgggatt
5821 cgtccccgga tgttggtgat ggagttagcc tccaagggtt ccttggatcg cctgcttcag
5881 caggacaaag ccagcctcac tagaacccta cagcacagga ttgcactcca cgtagctgat
5941 ggtttgagat acctccactc agccatgatt atataccgag acctgaaacc ccacaatgtg
6001 ctgcttttca cactgtatcc caatgctgcc atcattgcaa agattgctga ctacggcatt
6061 gctcagtact gctgtagaat ggggataaaa acatcagagg gcacaccagg gtttcgtgca
6121 cctgaagttg ccagaggaaa tgtcatttat aaccaacagg ctgatgttta ttcatttggt
6181 ttactactct atgacatttt gacaactgga ggtagaatag tagagggttt gaagtttcca
6241 aatgagtttg atgaattaga aatacaagga aaattacctg atccagttaa agaatatggt
6301 tgtgccccat ggcctatggt tgagaaatta attaaacagt gtttgaaaga aaatcctcaa
6361 gaaaggccta cttctgccca ggtctttgac attttgaatt cagctgaatt agtctgtctg
6421 acgagacgca ttttattacc taaaaacgta attgttgaat gcatggttgc tacacatcac
6481 aacagcagga atgcaagcat ttggctgggc tgtgggcaca ccgacagagg acagctctca
6541 tttcttgact taaatactga aggatacact tctgaggaag ttgctgatag tagaatattg
6601 tgcttagcct tggtgcatct tcctgttgaa aaggaaagct ggattgtgtc tgggacacag
6661 tctggtactc tcctggtcat caataccgaa gatgggaaaa agagacatac cctagaaaag
6721 atgactgatt ctgtcacttg tttgtattgc aattcctttt ccaagcaaag caaacaaaaa
6781 aattttcttt tggttggaac cgctgatggc aagttagcaa tttttgaaga taagactgtt
6841 aagcttaaag gagctgctcc tttgaagata ctaaatatag gaaatgtcag tactccattg
6901 atgtgtttga gtgaatccac aaattcaacg gaaagaaatg taatgtgggg aggatgtggc
6961 acaaagattt tctccttttc taatgatttc accattcaga aactcattga gacaagaaca
7021 agccaactgt tttcttatgc agctttcagt gattccaaca tcataacagt ggtggtagac
7081 actgctctct atattgctaa gcaaaatagc cctgttgtgg aagtgtggga taagaaaact
7141 gaaaaactct gtggactaat agactgcgtg cactttttaa gggaggtaat ggtaaaagaa
7201 aacaaggaat caaaacacaa aatgtcttat tctgggagag tgaaaaccct ctgccttcag
7261 aagaacactg ctctttggat aggaactgga ggaggccata ttttactcct ggatctttca
7321 actcgtcgac ttatacgtgt aatttacaac ttttgtaatt cggtcagagt catgatgaca
7381 gcacagctag gaagccttaa aaatgtcatg ctggtattgg gctacaaccg gaaaaatact
7441 gaaggtacac aaaagcagaa agagatacaa tcttgcttga ccgtttggga catcaatctt
7501 ccacatgaag tgcaaaattt agaaaaacac attgaagtga gaaaagaatt agctgaaaaa
7561 atgagacgaa catctgttga gtaa
//