LOCUS HQ205635 6036 bp DNA linear HUM 20-JAN-2011 DEFINITION Homo sapiens isolate DMPK_C10 myotonin-protein kinase gene, complete cds, alternatively spliced. ACCESSION HQ205635 VERSION HQ205635.1 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 6036) AUTHORS Wang,W., Shen,P., Thiyagarajan,S., Lin,S., Palm,C., Horvath,R., Klopstock,T., Cutler,D., Pique,L., Schrijver,I., Davis,R.W., Mindrinos,M., Speed,T.P. and Scharfe,C. TITLE Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing JOURNAL Nucleic Acids Res. 39 (1), 44-58 (2011) PUBMED 20843780 REFERENCE 2 (bases 1 to 6036) AUTHORS Wang,W., Shen,P., Thiyagarajan,S., Lin,S., Palm,C., Horvath,R., Klopstock,T., Cutler,D., Pique,L., Schrijver,I., Davis,R.W., Mindrinos,M., Speed,T.P. and Scharfe,C. TITLE Direct Submission JOURNAL Submitted (31-AUG-2010) Biochemistry, Stanford University, 855 S California Ave, Palo Alto, CA 94304, USA FEATURES Location/Qualifiers source 1..6036 /organism="Homo sapiens" /mol_type="genomic DNA" /isolate="DMPK_C10" /db_xref="taxon:9606" mRNA join(<38..197,846..937,1193..1276,1356..1451,2074..2222, 2495..2588,2842..3048,3125..3373,3525..3610,3747..3858, 4571..4728,4834..4931,5103..5149,5443..5528,5859..>6018) /product="myotonin-protein kinase" CDS join(38..197,846..937,1193..1276,1356..1451,2074..2222, 2495..2588,2842..3048,3125..3373,3525..3610,3747..3858, 4571..4728,4834..4931,5103..5149,5443..5528,5859..6018) /note="alternatively spliced" /codon_start=1 /product="myotonin-protein kinase" /protein_id="ADP91370.1" /translation="MSAEVRLRRLQQLVLDPGFLGLEPLLDLLLGVHQELGASELAQD KYVADFLQWAEPIVVRLKEVRLQRDDFEILKVIGRGAFSEVAVVKMKQTGQVYAMKIM NKWDMLKRGEVSCFREERDVLVNGDRRWITQLHFAFQDENYLYLVMEYYVGGDLLTLL SKFGERIPAEMARFYLAEIVMAIDSVHRLGYVHRDIKPDNILLDRCGHIRLADFGSCL KLRADGTVRSLVAVGTPDYLSPEILQAVGGGPGTGSYGPECDWWALGVFAYEMFYGQT PFYADSTAETYGKIVHYKEHLSLPLVDEGVPEEARDFIQRLLCPPETRLGRGGAGDFR THPFFFGLDWDGLRDSVPPFTPDFEGATDTCNFDLVEDGLTAMETLSDIREGAPLGVH LPFVGYSYSCMALRDSEVPGPTPMELEAEQLLEPHVQAPSLEPSVSPQDETAEVAVPA AVPAAEAEAEVTLRELQEALEEEVLTRQSLSREMEAIRTDNQNFASQLREAEARNRDL EAHVRQLQERMELLQAEGATAVTGVPSPRATDPPSHMAPRPWLWASARWWGQAPCTAA TCCSLPGSLGLAYRRRFPCSCSPLFCLVPPPWAALGWWPTPANSPQSGAAQEPPALPE P" mRNA join(<38..197,846..937,1193..1276,1356..1451,2074..2222, 2495..2588,2842..3048,3125..3388,3525..3610,3747..3858, 4571..4728,4834..4931,5103..5149,5439..5528,5859..>6011) /product="myotonin-protein kinase" mRNA join(<38..197,846..937,1193..1276,1356..1451,2074..2222, 2495..2588,2842..3048,3125..3373,3525..3610,3747..3858, 4571..4728,4834..4931,5103..5149,5439..5528,5859..>6011) /product="myotonin-protein kinase" CDS join(38..197,846..937,1193..1276,1356..1451,2074..2222, 2495..2588,2842..3048,3125..3388,3525..3610,3747..3858, 4571..4728,4834..4931,5103..5149,5439..5528,5859..6011) /note="alternatively spliced" /codon_start=1 /product="myotonin-protein kinase" /protein_id="ADP91372.1" /translation="MSAEVRLRRLQQLVLDPGFLGLEPLLDLLLGVHQELGASELAQD KYVADFLQWAEPIVVRLKEVRLQRDDFEILKVIGRGAFSEVAVVKMKQTGQVYAMKIM NKWDMLKRGEVSCFREERDVLVNGDRRWITQLHFAFQDENYLYLVMEYYVGGDLLTLL SKFGERIPAEMARFYLAEIVMAIDSVHRLGYVHRDIKPDNILLDRCGHIRLADFGSCL KLRADGTVRSLVAVGTPDYLSPEILQAVGGGPGTGSYGPECDWWALGVFAYEMFYGQT PFYADSTAETYGKIVHYKEHLSLPLVDEGVPEEARDFIQRLLCPPETRLGRGGAGDFR THPFFFGLDWDGLRDSVPPFTPDFEGATDTCNFDLVEDGLTAMVSGGGETLSDIREGA PLGVHLPFVGYSYSCMALRDSEVPGPTPMELEAEQLLEPHVQAPSLEPSVSPQDETAE VAVPAAVPAAEAEAEVTLRELQEALEEEVLTRQSLSREMEAIRTDNQNFASQLREAEA RNRDLEAHVRQLQERMELLQAEGATAVTGVPSPRATDPPSHLDGPPAVAVGQCPLVGP GPMHRRHLLLPARVPRPGLSEALSLLLFAVVLSRAAALGCIGLVAHAGQLTAVWRRPG AARAP" CDS join(38..197,846..937,1193..1276,1356..1451,2074..2222, 2495..2588,2842..3048,3125..3373,3525..3610,3747..3858, 4571..4728,4834..4931,5103..5149,5439..5528,5859..6011) /note="alternatively spliced" /codon_start=1 /product="myotonin-protein kinase" /protein_id="ADP91371.1" /translation="MSAEVRLRRLQQLVLDPGFLGLEPLLDLLLGVHQELGASELAQD KYVADFLQWAEPIVVRLKEVRLQRDDFEILKVIGRGAFSEVAVVKMKQTGQVYAMKIM NKWDMLKRGEVSCFREERDVLVNGDRRWITQLHFAFQDENYLYLVMEYYVGGDLLTLL SKFGERIPAEMARFYLAEIVMAIDSVHRLGYVHRDIKPDNILLDRCGHIRLADFGSCL KLRADGTVRSLVAVGTPDYLSPEILQAVGGGPGTGSYGPECDWWALGVFAYEMFYGQT PFYADSTAETYGKIVHYKEHLSLPLVDEGVPEEARDFIQRLLCPPETRLGRGGAGDFR THPFFFGLDWDGLRDSVPPFTPDFEGATDTCNFDLVEDGLTAMETLSDIREGAPLGVH LPFVGYSYSCMALRDSEVPGPTPMELEAEQLLEPHVQAPSLEPSVSPQDETAEVAVPA AVPAAEAEAEVTLRELQEALEEEVLTRQSLSREMEAIRTDNQNFASQLREAEARNRDL EAHVRQLQERMELLQAEGATAVTGVPSPRATDPPSHLDGPPAVAVGQCPLVGPGPMHR RHLLLPARVPRPGLSEALSLLLFAVVLSRAAALGCIGLVAHAGQLTAVWRRPGAARAP " gap 216..315 /estimated_length=unknown gap 411..526 /estimated_length=116 mRNA join(<656..937,1193..1276,1356..1451,2074..2222, 2495..2588,2842..3048,3125..3388,3525..3610,3747..3858, 4571..4728,4834..4931,5103..5149,5439..5528,5859..>6011) /product="myotonin-protein kinase" CDS join(656..937,1193..1276,1356..1451,2074..2222,2495..2588, 2842..3048,3125..3388,3525..3610,3747..3858,4571..4728, 4834..4931,5103..5149,5439..5528,5859..6011) /note="alternatively spliced" /codon_start=1 /product="myotonin-protein kinase" /protein_id="ADP91373.1" /translation="MGGHFWPPEPYTVFMWGSPWEADSPRVKLRGREKGRQTEGGAFP LVSSALSGDPRFFSPTTPPAEPIVVRLKEVRLQRDDFEILKVIGRGAFSEVAVVKMKQ TGQVYAMKIMNKWDMLKRGEVSCFREERDVLVNGDRRWITQLHFAFQDENYLYLVMEY YVGGDLLTLLSKFGERIPAEMARFYLAEIVMAIDSVHRLGYVHRDIKPDNILLDRCGH IRLADFGSCLKLRADGTVRSLVAVGTPDYLSPEILQAVGGGPGTGSYGPECDWWALGV FAYEMFYGQTPFYADSTAETYGKIVHYKEHLSLPLVDEGVPEEARDFIQRLLCPPETR LGRGGAGDFRTHPFFFGLDWDGLRDSVPPFTPDFEGATDTCNFDLVEDGLTAMVSGGG ETLSDIREGAPLGVHLPFVGYSYSCMALRDSEVPGPTPMELEAEQLLEPHVQAPSLEP SVSPQDETAEVAVPAAVPAAEAEAEVTLRELQEALEEEVLTRQSLSREMEAIRTDNQN FASQLREAEARNRDLEAHVRQLQERMELLQAEGATAVTGVPSPRATDPPSHLDGPPAV AVGQCPLVGPGPMHRRHLLLPARVPRPGLSEALSLLLFAVVLSRAAALGCIGLVAHAG QLTAVWRRPGAARAP" gap 956..1174 /estimated_length=219 gap 1295..1337 /estimated_length=43 gap 1470..2055 /estimated_length=586 variation 2227 /replace="c" gap 2241..2476 /estimated_length=236 gap 2607..2823 /estimated_length=217 gap 3067..3106 /estimated_length=40 gap 3407..3506 /estimated_length=unknown gap 3629..3728 /estimated_length=unknown variation 3780 /replace="g" gap 3877..4552 /estimated_length=676 gap 4747..4815 /estimated_length=69 gap 4950..5084 /estimated_length=135 gap 5168..5420 /estimated_length=253 gap 5547..5840 /estimated_length=294 BASE COUNT 472 a 901 c 918 g 561 t ORIGIN 1 ccggcccggg gaggggccat ggtgctgcct gtccaacatg tcagccgagg tgcggctgag 61 gcggctccag cagctggtgt tggacccggg cttcctgggg ctggagcccc tgctcgacct 121 tctcctgggc gtccaccagg agctgggcgc ctccgaactg gcccaggaca agtacgtggc 181 cgacttcttg cagtggggtg agtgcctacc ctcggnnnnn nnnnnnnnnn nnnnnnnnnn 241 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 301 nnnnnnnnnn nnnnntcctg ttccttcccc cagccccaaa tccagggttt tccaaagtgt 361 ggttcaagaa ccacctgcat ctgaatctag aggtactgga tacaacccca nnnnnnnnnn 421 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 481 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnntctc cccttgttct 541 ttagggtctg tccttctgca gactccgtta ccccacccta accatcctgc acacccttgg 601 agccctctgg gccaatgccc tgtcccgcaa agggcttctc aggcatctca cctctatggg 661 agggcatttt tggcccccag aaccttacac ggtgtttatg tggggaagcc cctgggaagc 721 agacagtcct agggtgaagc tgagaggcag agagaagggg agacagacag agggtggggc 781 tttccccctt gtctccagtg ccctttctgg tgaccctcgg ttcttttccc ccaccacccc 841 cccagcggag cccatcgtgg tgaggcttaa ggaggtccga ctgcagaggg acgacttcga 901 gattctgaag gtgatcggac gcggggcgtt cagcgaggta agccgaaccg ggcggnnnnn 961 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1021 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1081 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1141 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnntcacta tctcgacctc aggtagcggt 1201 agtgaagatg aagcagacgg gccaggtgta tgccatgaag atcatgaaca agtgggacat 1261 gctgaagagg ggcgaggtga ggggctgggc ggacnnnnnn nnnnnnnnnn nnnnnnnnnn 1321 nnnnnnnnnn nnnnnnncct ccgggtgccc tgcaggtgtc gtgcttccgt gaggagaggg 1381 acgtgttggt gaatggggac cggcggtgga tcacgcagct gcacttcgcc ttccaggatg 1441 agaactacct ggtgagctcc gggccggggn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1501 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1561 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1621 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1681 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1741 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1801 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1861 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1921 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1981 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2041 nnnnnnnnnn nnnnntgacg aaccccttct cagtacctgg tcatggagta ttacgtgggc 2101 ggggacctgc tgacactgct gagcaagttt ggggagcgga ttccggccga gatggcgcgc 2161 ttctacctgg cggagattgt catggccata gactcggtgc accggcttgg ctacgtgcac 2221 aggtgggcgc agcatggccg nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2281 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2341 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2401 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2461 nnnnnnnnnn nnnnnnctct tttcctccgt gcagggacat caaacccgac aacatcctgc 2521 tggaccgctg tggccacatc cgcctggccg acttcggctc ttgcctcaag ctgcgggcag 2581 atggaacggt gagccagtgc cctggcnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2641 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2701 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2761 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2821 nnnctgctcc ttttggtcca ggtgcggtcg ctggtggctg tgggcacccc agactacctg 2881 tcccccgaga tcctgcaggc tgtgggcggt gggcctggga caggcagcta cgggcccgag 2941 tgtgactggt gggcgctggg tgtattcgcc tatgaaatgt tctatgggca gacgcccttc 3001 tacgcggatt ccacggcgga gacctatggc aagatcgtcc actacaaggt gagcacggcc 3061 gcagggnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnntcct ctccctctga 3121 gcaggagcac ctctctctgc cgctggtgga cgaaggggtc cctgaggagg ctcgagactt 3181 cattcagcgg ttgctgtgtc ccccggagac acggctgggc cggggtggag caggcgactt 3241 ccggacacat cccttcttct ttggcctcga ctgggatggt ctccgggaca gcgtgccccc 3301 ctttacaccg gatttcgaag gtgccaccga cacatgcaac ttcgacttgg tggaggacgg 3361 gctcactgcc atggtgagcg ggggcggggt aggtacctgt ggccccnnnn nnnnnnnnnn 3421 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 3481 nnnnnnnnnn nnnnnnnnnn nnnnnntctg tgtgtcttgc gcaggagaca ctgtcggaca 3541 ttcgggaagg tgcgccgcta ggggtccacc tgccttttgt gggctactcc tactcctgca 3601 tggccctcag gtaagcactg ccctggacnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 3661 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 3721 nnnnnnnncc ctcctcctct ccccagggac agtgaggtcc caggccccac acccatggaa 3781 ctggaggccg agcagctgct tgagccacac gtgcaagcgc ccagcctgga gccctcggtg 3841 tccccacagg atgaaacagt aagttggtgg aggggannnn nnnnnnnnnn nnnnnnnnnn 3901 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 3961 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4021 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4081 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4141 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4201 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4261 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4321 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4381 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4441 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4501 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nncctggtcc 4561 ccatacacag gctgaagtgg cagttccagc ggctgtccct gcggcagagg ctgaggccga 4621 ggtgacgctg cgggagctcc aggaagccct ggaggaggag gtgctcaccc ggcagagcct 4681 gagccgggag atggaggcca tccgcacgga caaccagaac ttcgccaggt cgggatcggg 4741 gccgggnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4801 nnnnnnnnnn nnnnngtcct tacctcccca cagtcaacta cgcgaggcag aggctcggaa 4861 ccgggaccta gaggcacacg tccggcagtt gcaggagcgg atggagttgc tgcaggcaga 4921 gggagccaca ggtgagtccc tcatgtgtcn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4981 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 5041 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnntctttc ttctccttcc 5101 agctgtcacg ggggtcccca gtccccgggc cacggatcca ccttcccatg taagacccct 5161 ctctttcnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 5221 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 5281 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 5341 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 5401 nnnnnnnnnn nnnnnnnnnn tgtcccttct ctctccagct agatggcccc ccggccgtgg 5461 ctgtgggcca gtgcccgctg gtggggccag gccccatgca ccgccgccac ctgctgctcc 5521 ctgccagggt acgtccggct gcccacnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 5581 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 5641 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 5701 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 5761 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 5821 nnnnnnnnnn nnnnnnnnnn ctcgccctct ccccgcaggt ccctaggcct ggcctatcgg 5881 aggcgctttc cctgctcctg ttcgccgttg ttctgtctcg tgccgccgcc ctgggctgca 5941 ttgggttggt ggcccacgcc ggccaactca ccgcagtctg gcgccgccca ggagccgccc 6001 gcgctccctg aaccctagaa ctgtcttcga ctccgg //