LOCUS HQ205476 5358 bp DNA linear HUM 20-JAN-2011 DEFINITION Homo sapiens isolate MUTYH_C11 A/G-specific adenine DNA glycosylase gene, complete cds, alternatively spliced. ACCESSION HQ205476 VERSION HQ205476.1 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 5358) 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 5358) 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..5358 /organism="Homo sapiens" /mol_type="genomic DNA" /isolate="MUTYH_C11" /db_xref="taxon:9606" mRNA join(<235..270,1013..1133,1921..2111,2200..2239, 2354..2427,2565..2606,2690..2761,2837..2950,3036..3133, 3214..3358,3438..3501,3675..3863,3968..4104,4190..4342, 4967..5008,5145..>5276) /product="A/G-specific adenine DNA glycosylase" mRNA join(<235..270,1013..1133,1930..2111,2200..2239, 2354..2427,2565..2606,2690..2761,2837..2950,3036..3133, 3214..3358,3438..3501,3675..3863,3968..4104,4190..4342, 4967..5008,5145..>5276) /product="A/G-specific adenine DNA glycosylase" mRNA join(<235..270,1013..1133,1963..2111,2200..2239, 2354..2427,2565..2606,2690..2761,2837..2950,3036..3133, 3214..3358,3438..3501,3675..3863,3968..4104,4190..4342, 4967..5008,5145..>5276) /product="A/G-specific adenine DNA glycosylase" CDS join(235..270,1013..1133,1921..2111,2200..2239,2354..2427, 2565..2606,2690..2761,2837..2950,3036..3133,3214..3358, 3438..3501,3675..3863,3968..4104,4190..4342,4967..5008, 5145..5276) /note="alternatively spliced" /codon_start=1 /product="A/G-specific adenine DNA glycosylase" /protein_id="ADP90986.1" /translation="MTPLVSRLSRLWAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNS QAKPSACDACAGMIAECPGAPAGLARQPEEVVLQASVSSYHLFRDVAEVTAFRGSLLS WYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQ DLASASLEEVNQLWAGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRY TAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPSSTLVSQQLWGLAQQLVDPARPG DFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAP NTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQR PNSGLLAGLWEFPSVTWEPSEQLQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIK LTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVFRVYQGQQPGTCMGS KRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ" CDS join(235..270,1013..1133,1930..2111,2200..2239,2354..2427, 2565..2606,2690..2761,2837..2950,3036..3133,3214..3358, 3438..3501,3675..3863,3968..4104,4190..4342,4967..5008, 5145..5276) /note="alternatively spliced" /codon_start=1 /product="A/G-specific adenine DNA glycosylase" /protein_id="ADP90985.1" /translation="MTPLVSRLSRLWAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNS QAKPSACDGMIAECPGAPAGLARQPEEVVLQASVSSYHLFRDVAEVTAFRGSLLSWYD QEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLA SASLEEVNQLWAGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAG AIASIAFGQATGVVDGNVARVLCRVRAIGADPSSTLVSQQLWGLAQQLVDPARPGDFN QAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAPNTG QCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNS GLLAGLWEFPSVTWEPSEQLQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTY QVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVFRVYQGQQPGTCMGSKRS QVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ" CDS join(235..270,1013..1133,1963..2111,2200..2239,2354..2427, 2565..2606,2690..2761,2837..2950,3036..3133,3214..3358, 3438..3501,3675..3863,3968..4104,4190..4342,4967..5008, 5145..5276) /note="alternatively spliced" /codon_start=1 /product="A/G-specific adenine DNA glycosylase" /protein_id="ADP90984.1" /translation="MTPLVSRLSRLWAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNS QAKPSACDGLARQPEEVVLQASVSSYHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRR AEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVNQLW AGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQAT GVVDGNVARVLCRVRAIGADPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVC TPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAPNTGQCHLCLPPSEP WDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPS VTWEPSEQLQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQT PVTTVPPGARWLTQEEFHTAAVSTAMKKVFRVYQGQQPGTCMGSKRSQVSSPCSRKKP RMGQQVLDNFFRSHISTDAHSLNSAAQ" gap 289..355 /estimated_length=67 gap 532..535 /estimated_length=4 variation 594 gap 609..708 /estimated_length=unknown gap 895..994 /estimated_length=unknown mRNA join(<1019..1133,1960..2111,2200..2239,2354..2427, 2565..2606,2690..2761,2837..2950,3036..3133,3214..3358, 3438..3501,3675..3863,3968..4104,4190..4342,4967..5008, 5145..>5276) /product="A/G-specific adenine DNA glycosylase" mRNA join(<1019..1133,1963..2111,2200..2239,2354..2427, 2565..2606,2690..2761,2837..2950,3036..3133,3214..3358, 3438..3501,3675..3863,3968..4104,4190..4342,4967..5008, 5145..>5276) /product="A/G-specific adenine DNA glycosylase" CDS join(1019..1133,1960..2111,2200..2239,2354..2427, 2565..2606,2690..2761,2837..2950,3036..3133,3214..3358, 3438..3501,3675..3863,3968..4104,4190..4342,4967..5008, 5145..5276) /note="alternatively spliced" /codon_start=1 /product="A/G-specific adenine DNA glycosylase" /protein_id="ADP90988.1" /translation="MRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDAGLARQ PEEVVLQASVSSYHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYA VWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVNQLWAGLGYYSRGRRLQ EGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCR VRAIGADPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVE SLCRARQRVEQEQLLASGSLSGSPDVEECAPNTGQCHLCLPPSEPWDQTLGVVNFPRK ASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQRKA LLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLT QEEFHTAAVSTAMKKVFRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRS HISTDAHSLNSAAQ" CDS join(1019..1133,1963..2111,2200..2239,2354..2427, 2565..2606,2690..2761,2837..2950,3036..3133,3214..3358, 3438..3501,3675..3863,3968..4104,4190..4342,4967..5008, 5145..5276) /note="alternatively spliced" /codon_start=1 /product="A/G-specific adenine DNA glycosylase" /protein_id="ADP90987.1" /translation="MRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGLARQP EEVVLQASVSSYHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAV WVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVNQLWAGLGYYSRGRRLQE GARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRV RAIGADPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVES LCRARQRVEQEQLLASGSLSGSPDVEECAPNTGQCHLCLPPSEPWDQTLGVVNFPRKA SRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQRKAL LQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQ EEFHTAAVSTAMKKVFRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSH ISTDAHSLNSAAQ" gap 1152..1911 /estimated_length=760 gap 2130..2181 /estimated_length=52 gap 2258..2335 /estimated_length=78 gap 2446..2546 /estimated_length=101 gap 2625..2671 /estimated_length=47 gap 2780..2818 /estimated_length=39 gap 2969..3017 /estimated_length=49 gap 3152..3195 /estimated_length=44 gap 3377..3419 /estimated_length=43 gap 3520..3656 /estimated_length=137 variation 3690 gap 3882..3949 /estimated_length=68 gap 4123..4171 /estimated_length=49 gap 4372..4749 /estimated_length=378 gap 4790..4948 /estimated_length=159 gap 5027..5126 /estimated_length=unknown BASE COUNT 606 a 852 c 894 g 631 t ORIGIN 1 caacgctcca ggcttttgca gccggagccg cggtgtacaa cggaacttgt agtctcctcg 61 tggctagttc aggcggaagg agcagtcctc tgaagcttga ggagcctcta gaactatgag 121 cccgaggcct tcccctctcc cagagcgcag aggctttgaa ggctacctct gggaagccgc 181 tcaccgtcgg aagctgcggg agctgaaact gcgccatcgt cactgtcggc ggccatgaca 241 ccgctcgtct cccgcctgag tcgtctgtgg gtacgctgga cttgcggtnn nnnnnnnnnn 301 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnncgaac 361 ttccgttcag acgtcccggg tccggcgcgg ggaaggcagc ctggcgcgcg ctaattgcct 421 attggcctgt gctgccggct cgcagcccgg gtggacccga gccacgcccc ctggagtgcg 481 ccggaaagcc gggcgcgcta gagctcgcgg gaggtaatct ttctctcctg cnnnngcggc 541 gggaacgcgg ggcctccgtg ttctgctgtc ttcatcagcg tgggccgcgg gtagggggta 601 gtggggtgnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 661 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnca ttaattcatt 721 taacaggtat ctattgtgta cagtttacct ggcactgact ttggacacac accaatcaac 781 aagagaatca gtccttgcac tcaagtcgtt ttttacagtc aaattcagga agtacacact 841 gatggaaaga atcaaagtaa tgtaaaatta cattaggtaa gagctacaag gcagnnnnnn 901 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 961 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnntgggtc tttttgtttc aggccatcat 1021 gaggaagcca cgagcagccg tgggaagtgg tcacaggaag caggcagcca gccaggaagg 1081 gaggcagaag catgctaaga acaacagtca ggccaagcct tctgcctgtg atggtaagga 1141 actaggttgt gnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1201 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1261 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1321 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1381 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1441 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 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 ngatgcacag 1921 cctgtgcagg gatgattgct gagtgtcctg gggccccagc aggcctggcc aggcagccgg 1981 aagaggtggt attgcaggcc tctgtctcct cataccatct attcagagac gtagctgaag 2041 tcacagcctt ccgagggagc ctgctaagct ggtacgacca agagaaacgg gacctaccat 2101 ggagaagacg ggtaggcagg cgaggagcan nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2161 nnnnnnnnnn nnnnnnnnnn nctggggttg cattgacagg cagaagatga gatggacctg 2221 gacaggcggg catatgctgg tcagtacatc tcctgagnnn nnnnnnnnnn nnnnnnnnnn 2281 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnccaac 2341 ccctttcccc cagtgtgggt ctcagaggtc atgctgcagc agacccaggt tgccactgtg 2401 atcaactact ataccggatg gatgcaggtg actccagggg aggaannnnn nnnnnnnnnn 2461 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2521 nnnnnnnnnn nnnnnnnnnn nnnnnngcct gcctgtggct atagaagtgg cctacactgc 2581 aggacctggc cagtgcttcc ctggaggtga gagccaccct agggnnnnnn nnnnnnnnnn 2641 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nctctgatcc tacccacagg aggtgaatca 2701 actctgggct ggcctgggct actattctcg tggccggcgg ctgcaggagg gagctcggaa 2761 ggtaagggga tggcaggagn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnngt 2821 cttgcactcc aatcaggtgg tagaggagct agggggccac atgccacgta cagcagagac 2881 cctgcagcag ctcctgcctg gcgtggggcg ctacacagct ggggccattg cctctatcgc 2941 ctttggccag gtgatctcac agcccaccnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 3001 nnnnnnnnnn nnnnnnnttg gcccctctgt gccaggcaac cggtgtggtg gatggcaacg 3061 tagcacgggt gctgtgccgt gtccgagcca ttggtgctga tcccagcagc acccttgttt 3121 cccagcagct ctggtaggat gttggggtaa cnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 3181 nnnnnnnnnn nnnnnagtgt tcccttcttt taggggtcta gcccagcagc tggtggaccc 3241 agcccggcca ggagatttca accaagcagc catggagcta ggggccacag tgtgtacccc 3301 acagcgccca ctgtgcagcc agtgccctgt ggagagcctg tgccgggcac gccagagagt 3361 aagcctactg gggaagnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnc 3421 aaccctgtgc ctctcaggtg gagcaggaac agctcttagc ctcagggagc ctgtcgggca 3481 gtcctgacgt ggaggagtgt ggtgagcacc aaacctagcn nnnnnnnnnn nnnnnnnnnn 3541 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 3601 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnngggg 3661 atctccgttc ccagctccca acactggaca gtgccacctg tgcctgcctc cctcggagcc 3721 ctgggaccag accctgggag tggtcaactt ccccagaaag gccagccgca agccccccag 3781 ggaggagagc tctgccacct gtgttctgga acagcctggg gcccttgggg cccaaattct 3841 gctggtgcag aggcccaact caggtacctg gatactgggc gnnnnnnnnn nnnnnnnnnn 3901 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnng gctgccctcc 3961 ctctcaggtc tgctggcagg actgtgggag ttcccgtccg tgacctggga gccctcagag 4021 cagcttcagc gcaaggccct gctgcaggaa ctacagcgtt gggctgggcc cctcccagcc 4081 acgcacctcc ggcaccttgg ggaggtaagt gagcagcgga atnnnnnnnn nnnnnnnnnn 4141 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nccttgaccc ttcctccagg ttgtccacac 4201 cttctctcac atcaagctga catatcaagt atatgggctg gccttggaag ggcagacccc 4261 agtgaccacc gtaccaccag gtgctcgctg gctgacgcag gaggaatttc acaccgcagc 4321 tgtttccacc gccatgaaaa aggcactacc tttgttgtct ttgttgtact tnnnnnnnnn 4381 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4441 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4501 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4561 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4621 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4681 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4741 nnnnnnnnnt ttcaccatgt tggccaggct ggtctcaaac tcctggcctn nnnnnnnnnn 4801 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4861 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4921 nnnnnnnnnn nnnnnnnnnn nnnnnnnncc ctgtcttctt gtctaggttt tccgtgtgta 4981 tcagggccaa cagccaggga cctgtatggt aagtctccta ggcctcnnnn nnnnnnnnnn 5041 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 5101 nnnnnnnnnn nnnnnnnnnn nnnnnncctt ccattttttc acagggttcc aaaaggtccc 5161 aggtgtcctc tccgtgcagt cggaaaaagc cccgcatggg ccagcaagtc ctggataatt 5221 tctttcggtc tcacatctcc actgatgcac acagcctcaa cagtgcagcc cagtgacacc 5281 tctgaaagcc cccattccct gagaatcctg ttgttagtaa agtgcttatt tttgtagtta 5341 ttttatgttg tatttttt //