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Allelic Variants
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Wild DNA Sequence
(with mutations highlighted)- ORIGIN 1 gtcggcgagg agggtccggc cggagttgaa ggattgaact ttccggctca gtcgcggcgt 61 ctgcctggtc ctcagcagtg cagccccggc gcggagcagg gagcctcggc ccgcgcccgg 121 cgccctcgcc ctcgccctcg acccgcagcc atggtgcccg gggtgcccgg cgcggtcctg 181 accctctgcc tctggctggc ggcctccagc ggctgcctgg cggccggccc cggcgcggct 241 gctgcgcggc ggctggacga gtcgctgtct gccgggagcg tccagcgcgc tcgctgcgcc 301 tccaggtgcc tgagcctgca gatcactcgc atctccgcct tcttccagca cttccagaac 361 aatggttccc tggtttggtg ccagaatcac aagcaatgtt ctaagtgcct ggagccctgc 421 aaggaatcag gggacctgag gaaacaccag tgccaaagct tttgtgagcc tctcttcccc 481 aagaagagct acgaatgctt gaccagctgt gagttcctca aatacatcct gttggtgaag 541 cagggggact gtccggctcc tgagaaagcc agtggatttg cggccgcctg tgttgaaagc 601 tgcgaagttg acaatgagtg ctctggggtg aagaaatgtt gttcgaatgg gtgtggacac 661 acctgtcaag tacccaagac tctgtacaaa ggtgtccccc tgaagcccag gaaagagtta 721 cgatttacag aactgcagtc tggacagctg gaggttaagt ggtcctcgaa cttgaatatt 781 tctattgagc ctgtgatcta tgtggtacaa agaagatgga attatggaat ccctcctagc 841 gaagatgacg ccactcactg gcagacagtg gcccagacca cagacgagcg agttcaactg 901 actgacataa gacccagccg atggtaccag tttcgagtgg ctgctgtgaa tgtgcatgga 961 actcgaggct tcactgcccc cagcaaacac ttccgttctt ccaaagatcc atctgcccca 1021 ccagcaccgg ctaacctccg gctggccaac tccaccgtca acagtgatgg gagtgtgacc 1081 gtcactatag tttgggatct ccccgaggag ccggacatcc ctgtgcatca ttacaaggtc 1141 ttttggagct ggatggtcag cagtaagtct cttgtcccaa caaagaagaa gcggagaaag 1201 actacggatg ggtttcaaaa ttctgtgatc ctggagaaac tccagccaga ctgtgactat 1261 gttgtggaat tgcaagccat aacgtactgg ggacagacac ggctgaagag tgcaaaggtg 1321 tcccttcact tcacatcgac acatgcaacc aacaacaaag aacagcttgt gaaaactaga 1381 aaaggtggaa ttcaaacaca actccctttt caaagacgac gacccactcg cccgctggaa 1441 gtcggagctc ccttctatca ggatggccaa ctgcaagtta aagtctactg gaagaagaca 1501 gaagatccca ctgtcaaccg atatcatgtg cggtggtttc ctgaagcgtg tgcccacaac 1561 agaacaaccg gatcagaggc atcatctggc atgacccacg aaaattacat aattcttcaa 1621 gatctgtcat tttcctgcaa gtataaggtg actgtccaac caatacggcc aaaaagtcac 1681 tccaaggcag aagctgtttt cttcactact ccaccatgct ctgctcttaa ggggaagagc 1741 cacaagcctg ttggctgcct gggcgaagca ggtcatgttc tttctaaggt gctagctaag 1801 cctgagaacc tttctgcttc attcatcgtc caggatgtga acatcaccgg tcacttttct 1861 tggaagatgg ccaaggccaa tctctatcag cccatgactg ggtttcaagt gacttgggct 1921 gaggtcacta cggaaagcag acagaacagc ctacccaaca gcattatttc acagtcccag 1981 atcctgcctt ccgatcatta tgtcctaaca gtgcccaatc tgagaccatc tactctttac 2041 cgactggaag tgcaagtgct gaccccagga ggggaggggc cggccaccat caagacgttc 2101 cggacgccgg agctcccacc ctcttcagca cacagatctc atcttaagca tcgtcatcca 2161 catcattaca agccttctcc agaaagatac taaactgttc aaaaagattt tgtgaaattg 2221 cacagatgtg taagcttgtt gaacttcggc cacgagacat gcacacttcc agaggcagtg 2281 ggaactgctc agaggcccgg actctcctat gtgactttag tgcaggaaga acttctgtca 2341 atcatggacg catctggaga caagtgagaa acagtagatt ggtgaagaca gacaccagtt 2401 ccctacaagc atggagaaaa tgaagaatag gcctgtttaa tgctaaattt tgttttcatg 2461 tatggtgtcg ctcatttcta ttgaattaca acagaactca gttttccctg aatttggagc 2521 accaaactcc gccccaaaaa ggagagtaac aaatacacaa ttcacacata acactaagcg 2581 taaatctaat caataaaata tatttttgac taaattattg attcgatatg aaaaatcaac 2641 taagattaca cagctttgtt tttttgaatc tttcctaaga tcatttttat cctaggtgat 2701 ttttaaatga aaatgtgtaa tctaaaatat accagcgaat ttaaatctaa aaatgctcct 2761 actttaagta ccttgtgctg ctctttatgc aaaggtaaat caaagttccc tctataaatt 2821 atgatttaca aaagacaccc aagccagagg aactcaatga aataagctgc taatcagatt 2881 ttaccttgga gaaatgaaaa ttatttcttg gggatgcctt ttaatatttg atcctattat 2941 gtgagagatt ttcctgatat gttatcttat ttatattttc ccttattttc ctcaatgcag 3001 ataatagctt ttggtgcact tttgtttcac catctgaaaa ttcacaaaac ttcttgcttc 3061 aaatgaaaaa atcccaacta ttgagcatgt ttaaatcttt gcagagattt gccttttctt 3121 aatcaaagaa aggtctttgt gtgctagaat attattggta atgttttaaa aattcctttg 3181 attgatagag aaggacagtt atttgcattt aattcaccca tatgctttca aatctagtat 3241 atcttacttt ttggaaatgt tttatgctac aaattagtgc cttgtagcat gaacttaagt 3301 caaaacgtgt tatcaatata gagtgttgca gtgtatattg taacaaccta aaacgcagag 3361 aagtttaatt taatactgtt ttttttcttg aaggaatact cacatacatg gtttgaaatg 3421 tgcatagata tgcatgtcta tataattata aatgcatgtg tatatatatg caaatatatg 3481 tacatataca tgtatataca cacagacaca tgcatataca tgaatatacc ttgagcatga 3541 atccctggag aaatcgtttt cgtagctcac caatggtgag taaagataca gctcttttaa 3601 aggtcataag gataatatat tttccccatc aatgctgatt ctgagaaaag agcaatttat 3661 caaaattaaa cactgtaaaa gaaaggtgtc catatgtctt tacctaccta agtaaaacag 3721 gaagaaaatc agtaacatta tccttaggtt ttgacaatgg tacttgcttc ttgttgtttt 3781 attgtttcct gaattcatgc agatgcctgg ccattcctgg gaagagtgga taactcagaa 3841 gtcactgtac tccacagagc ctcactgcag tgtctaaagg tagatgcaaa ttaaaatgca 3901 gggaaaataa cttttctgat gttgatgcat gtctttggga aacacattta taaacatgga 3961 tacctgataa tagatattga aacccatttc ctgtgtgtta aaatatttaa aaagtggata 4021 ttccaggaat gttttgcagc tttgtacaag taacataaat tggacacctc agaatgaaag 4081 ttcatgttgg ttctgaatgg ttcactgcag ctcctgtcac aagctgggat ggatttatca 4141 cattgagtta tgaaattacc tggttctaag aatttttgag tggcaaaaat agaaaacaat 4201 cttcatttga aaacatccct aagcttgaat aaatggatac catagatagc ttctcttttt 4261 tattctggtg tcattaccag catctgaatt tcaagttctt aaaatttcaa aaattaaaat 4321 ttttcattat tagctatcca tttatctttt acatgaactt gtcatgaaca aattcaaatg 4381 tttatgccag caaatttttg tactgttgca tagttaaaaa tgctgggagt ctctgcatag 4441 atacaaaata ttattaaatt attacataaa tttaatttta taaaatttaa tcatgcttct 4501 tttgtctggg taatagacat tggacagata tttttagttc agatggtgat tctgaagctt 4561 acatctccct taaaaaaatc taaagcagct cttatgggct tctaatttta atataaataa 4621 ataatttaaa ttttattggt gttattggaa gaaaaatgct attaatgggc taataaaaaa 4681 catgtgtttc tcttatggat tttaataagc tccagtatta ttcaaatgat caaaaatata 4741 gttataattt tttgaatttt aaaaatgtga ttgctctaat aaagaataaa atctatgctt 4801 tttaacaaac atagttttgg tgcctaattc tgtaatatgt tttattgaaa ttagattcat 4861 ttctctaatg tgagaaaaat atatccagta atagtattga ctgtttaaaa aattgagctc 4921 atcaaaaata ttgtcatcaa atacaggtgg ttaatctgac atacattgca gttacatgca 4981 ttatttttat ttacaacatt tgctccttaa tgatgaattt atctgtgtta ccctgttttt 5041 ctacctggaa ctccatagaa tgatgtttgc aaaccaacat gtgctctttt cagtcattca 5101 ctgttttaat atgacatggt agagaagata aggtttatgg caggtaattt tttgtaatgt 5161 gtattaaacg aagttcaaag attagaaata catctgtgtc ctgaaaacct tagatacata 5221 gccgactgta tacagaggtt catctcaacc tcaacactat tgacttttgg ggctggatag 5281 ttctctgttg tgggggtttg tcttgtgcac tgtaggtttt tagtagcatc cacactttct 5341 cctcaccaga tgccagttgc accctccccc aagttgagac aaccaaaaat gtctccagat 5401 attgccagct accccttgag ggatggtacc tctggttgag aaccattgct agagaatgat 5461 ctttactgaa tttgcccttt ataagaaacc cagtgaattt ctagagcaag tcccaaaaac 5521 taagggacag ctaagaagtt attatggttg acttcaaagg cctaaactgt gttttttatg 5581 tccactaaac aacttgatta aaagacggaa ttttgactcg tgtctgtatc atacaagtac 5641 aaatactaat tttgccctat gtatccgtaa atgtcatttg tgattttgac ttatttattt 5701 aatgcccttt cttatgccgt gggttttcaa gtttactcat ttctatggtt gcaaataact 5761 ctaaaactta ttatataaac tttcatatta taggcagaac acaatggcta aatatctgtt 5821 gcatgtactt taaagtttat tataaaatat aaacagatat ataaagatgt tgactcttac 5881 ctgtgatttt gcatggtcag actcggtgtc aggtacggag aggattctca tgactgtctt 5941 acctctactg aatattctag tgagttatat gatttacgga gtgattaaca gaggtctata 6001 taaagttact tttccccttt acttaattat attgtagtgt gcagataaca aaactgctac 6061 cttctcatcc aagtggtctg tagaattcat gtcccttaca gtggtcattt aaagtcaata 6121 tttatttatg tatgtaataa aaaaagttgg atttttgtgt atgtctgtca cattatttag 6181 agagaagtaa tcttgtaaaa atgttttgta aaaaacaaaa aagtattgta aatagtcttg 6241 atattctgtg actcattatt ttcatgttag agtttgtaca tactggttca ataataaagt 6301 atccttaaac caga Then, through transcription, and, later, translation, the
following wild protein sequence succeeds the previous wild DNA sequence. Wild Protein Sequence (with mutations highlighted)- ORIGIN 1 mvpgvpgavl tlclwlaass gclaagpgaa aarrldesls agsvqrarca srclslqitr 61 isaffqhfqn ngslvwcqnh kqcskclepc kesgdlrkhq cqsfceplfp kksyecltsc 121 eflkyillvk qgdcpapeka sgfaaacves cevdnecsgv kkccsngcgh tcqvpktlyk 181 gvplkprkel rftelqsgql evkwsskfni siepviyvvq rrwnygihps eddathwqtv 241 aqttdervql tdirpsrwyq frvaavnvhg trgftapskh frsskdpsap papanlrlan 301 stvnsdgsvt vtivwdlpee pdipvhhykv fwswmvssks lvptkkkrrk ttdgfqnsvi 361 leklqpdcdy vvelqaityw gqtrlksakv slhftsthat nnkeqlvktr kggiqtqlpf 421 qrrrptrple vgapfyqdgq lqvkvywkkt edptvnryhv rwfpeacahn rttgseassg 481 mthenyiilq dlsfsckykv tvqpirpksh skaeavfftt ppcsalkgks hkpigclgea 541 ghvlskvlak penlsasfiv qdvnitghfs wkmakanlyq pmtgfqvtwa evttesrqns 601 lpnsiisqsq ilpsdhyvlt vpnlrpstly rlevqvltpg gegpatiktf rtpelppssa 661 hrshlkhrhp hhykpspery Allelic Variants
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308700 OMIM http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=kms OMIM |
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