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Sequences

Sequence NM_001032221

CGCGGCTGCGGGGCGGAGAGCTGCGGCTGGCCCAGCGCGCCCACCTGAGGAGGCGGCGGGGTCCGCAGGCGTCGCGGGACGAGGAGATCGGAGCCGGGAG ACTCGCGCAGCGCCATGGCCCCCATTGGCCTCAAAGCTGTTGTCGGAGAGAAGATTATGCATGATGTGATAAAGAAGGTCAAGAAGAAGGGGGAATGGAA GGTGCTGGTGGTGGATCAGTTAAGCATGAGGATGCTGTCCTCCTGCTGCAAGATGACAGACATCATGACCGAGGGCATAACGATTGTGGAAGATATCAAT AAGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAGTCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGA CTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAAC TCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAGGTCTATTCCTTGGACTCTGCTGACTCTTTCCAAAGCTTCTACAGTCCCCACAAGGCT CAGATGAAGAATCCTATACTGGAGCGCCTGGCAGAGCAGATCGCGACCCTTTGTGCCACCCTGAAGGAGTACCCGGCTGTGCGGTATCGGGGGGAATACA AGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGGCCCAGACAAGGCACGCTCCCA GCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGAT GTATACAAGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACA TCGCAGAGGTGTCCCAGGAAGTCACCCGGTCTCTGAAAGATTTTTCTTCTAGCAAGAGAATGAATACTGGAGAGAAGACCACCATGCGGGACCTGTCCCA GATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGTACTCCACCCACCTGCACCTTGCTGAGGACTGTATGAAGCATTACCAAGGCACCGTA GACAAACTCTGCCGAGTGGAGCAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGG ATGCCAATGTCAGCACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCA CGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATTCCACGCTGCGTCGCCGGAGCAAGCCG GAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGACACTATTGAGGACAAACTTGACA CCAAACACTACCCTTATATCTCTACCCGTTCCTCTGCCTCCTTCAGCACCACCGCCGTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGG CGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAG TGGGAGGTGCTGATAGGATCCACACACATCCTCACCCCACAGAAACTGCTGGACACACTGAAGAAACTGAATAAAACAGATGAAGAAATAAGCAGTTAAA AAAATAAGTCGCCCCTCCAAAACACGCCCCCATCCCACAGCGCTCCGCAGCTTCCCACCACCGCCCGCCTCAGTTCCTTTGCGTCTGTTGCCTCCCCAGC CCTGCACGCCCTGGCTGGCACTGTTGCCGCTGCATTCTCGTGTTCAGTGATGCCCTCTTCTTGTTTGAAACAAAAGAAAATAATGCATTGTGTTTTTTAA AAAGAGTATCTTATACATGTATCCTAAAAAGAGAAGCTCATGTGCAATTGGTGCACAGCAGGAGAAATTTCTGGACTGTTAGGATGAATGGACGCCTTCT CCCCGTTATTTAAGATTTGTGACCTTGTACATAACCCTGGGTGACGTGCACATTGCTTGGGTATGGAACGGTAGAAATTTGGGTGTTTTTAAAACCTTGT TTGGGGTTGTTCCTGTCCTTGTTGAGAATCATAGAGATGTCTGTGTTCTTGGAGTATTTCACACTGAGGACTAATCTGCTATCTTCATTCCAGTCCCTAC CCCTCAGTGCCTGCTCTCATCCAAATAACCTGGGAGGTGACAATCAGGATATCTCAGGAGGTCCAAGGTGGAACAGACCTCTTTGCCTTTCCCAGCGTCT CATACCCCCGGTAGTGCAGCTGTGGGTGGAGGCTGGGGTGTCTGCACGAAGTCAGGCCAGCGTCCTCCTCCACAGCCTGTCACTGCCCCCTCCCCAGCCT GTGTCCACAGTGCTGTGATCCCGAGGGAAGTCCTCCAGTCTAAGTCACAGTGCCCTGACAGGTGAGAAGCAAACTCCCGCTGGAAGCCTCCATCTCTTTG GAAAAACAGTTAGTCTGGAGCCTGTGGCCCAGGCCCTTCTGTCCCCAGGCATCATCCCAACAGCTCATTTTCCCTAGTCCGCCTTCGTTCAAGGGTCAGG AATGGACCAGAACAGATGGGTTCTGGAGGCCCCTGAACAGAGGGCTATGGCTGTGGAGAAGGTTCTTGGCCCGTTGGACTCACACAGACCCTGTACCCTC TCGGCAAGCATCTTCAGTCAGATTATCCTCAGTTTCAGATACTTCATAATACCTTGTGTTGTGTGGGGTCATACATCATCGTGTTTGTAAGAGAAGATGG TCATTTTATTCTCTGTATAAAACTTAGCTCTAAAGCAGAAACTAAAGCAGCAAATGCAGGAAGGCTGTCTCGCCATCCTCAAGACTCAGCAGCTCTCATT CTCCAGTGGTGAGCACACCATTTGTGCTGCTGCTGTTGTCGTGAAATATAATAACAGTGGAAGTCACAAAAATGTCCCCTGCCCAGCCCCCTCGCCGCCC TTGACCTCCTGCAGGCCATGTGTGTATTACTTGTCTAGTGATGTCCTCTCAAAGTGCTGTACGCGAGCTCGGCGCCACCTCCGCCTCCCTTTCAGAGCCT GCTCCCCGCCCTCTCTGCTCGCTGCATTGTGGTGTTCTCTTCTCAAGGCTTTGAAATCTCCCCTTGCACTGAGATTAGTCGTCAGATCTCTCCCCGTCTC CCTCCCAACTTATACGACCTGATTTCCTTAGGACGGAACCGCAGGCACCTGCGCCGGGCGTCTTACTCCCGCTGCTTGTTCTGTCCCCTCCCTCGGACCA AACAGTGCTCATGCTTCAGGACCTTGTTTGTCGAAGATGTTGGTTTCCCTTTCTCTGTTATTTATATAAAAATAATTTATCAAAAGGATATTTTAAAAAA GCTAGTCTGTCTTGAAACTTGTTTACCTTAAAATTATCAGAATCTCAGTGTTTGAAAGTACTGAAGCACAAACATATATCATCTCTGTACCATTCTGTAC TAAAGCACTTGAGTCTAATAAATAAAGAAATCAGCACCCCTTCCCGGTGTCCAGGGGG

refseq_STXBP1.F1 (forward primer)
refseq_STXBP1.R1 (reverse primer)
Single exon skipping

Frame 0

RGCGAESCGWPSAPT*GGGGVRRRRGTRRSEPG DSRSAMAPIGLKAVVGEKIMHDVIKKVKKKGEWK VLVVDQLSMRMLSSCCKMTDIMTEGITIVEDIN KRREPLPSLEAVYLITPSEKSVHSLISDFKDPP TAKYRAAHVFFTDSCPDALFNELVKSRAAKVIKT LTEINIAFLPYESQVYSLDSADSFQSFYSPHKA QMKNPILERLAEQIATLCATLKEYPAVRYRGEY KDNALLAQLIQDKLDAYKADDPTMGEGPDKARSQ LLILDRGFDPSSPVLHELTFQAMSYDLLPIEND VYKYETSGIGEARVKEVLLDEDDDLWIALRHKH IAEVSQEVTRSLKDFSSSKRMNTGEKTTMRDLSQ MLKKMPQYQKELSKYSTHLHLAEDCMKHYQGTV DKLCRVEQDLAMGTDAEGEKIKDPMRAIVPILL DANVSTYDKIRIILLYIFLKNGITEENLNKLIQH AQIPPEDSEIITNMAHLGVPIVTDSTLRRRSKP ERKERISEQTYQLSRWTPIIKDIMEDTIEDKLD TKHYPYISTRSSASFSTTAVSARYGHWHKNKAPG EYRSGPRLIIFILGGVSLNEMRCAYEVTQANGK WEVLIGSTHILTPQKLLDTLKKLNKTDEEISS* KNKSPLQNTPPSHSAPQLPTTARLSSFASVASPA LHALAGTVAAAFSCSVMPSSCLKQKKIMHCVF* KEYLIHVS*KEKLMCNWCTAGEISGLLG*MDAF SPLFKICDLVHNPG*RAHCLGMER*KFGCF*NLV WGCSCPC*ES*RCLCSWSISH*GLICYLHSSPY PSVPALIQITWEVTIRISQEVQGGTDLFAFPSV SYPR*CSCGWRLGCLHEVRPASSSTACHCPLPSL CPQCCDPEGSPPV*VTVP*QVRSKLPLEASISL EKQLVWSLWPRPFCPQASSQQLIFPSPPSFKGQ EWTRTDGFWRPLNRGLWLWRRFLARWTHTDPVPS RQASSVRLSSVSDTS*YLVLCGVIHHRVCKRRW SFYSLYKT*L*SRN*SSKCRKAVSPSSRLSSSH SPVVSTPFVLLLLS*NIITVEVTKMSPAQPPRRP *PPAGHVCITCLVMSSQSAVRELGATSASLSEP APRPLCSLHCGVLFSRL*NLPLH*D*SSDLSPS PSQLIRPDFLRTEPQAPAPGVLLPLLVLSPPSDQ TVLMLQDLVCRRCWFPFLCYLYKNNLSKGYFKK ASLS*NLFTLKLSESQCLKVLKHKHISSLYHSV LKHLSLINKEISTPSRCPG

Frame 1

AAAGRRAAAGPARPPEEAAGSAGVAGRGDRSRE TRAAPWPPLASKLLSERRLCMM**RRSRRRGNG RCWWWIS*A*GCCPPAAR*QTS*PRA*RLWKISI SAESRSPAWRLCISSLHPRSPSTLSSVTLRTRR LLNTGLHTSSSLTLVQMPCLMNW*NPEQPKSSK L*RKSILHFSRMNPRSIPWTLLTLSKASTVPTRL R*RILYWSAWQSRSRPFVPP*RSTRLCGIGGNT RTMPCWLS*SRTSSMPIKLMIQQWGRAQTRHAP SS*SWIEALTPAPLCSMN*LFRL*VMICCLSKMM YTSMRPAASGRHG*RRCSWTRTTTCG*HCATST SQRCPRKSPGL*KIFLLARE*ILERRPPCGTCP RC*RRCLSTRKSSASTPPTCTLLRTV*SITKAP* TNSAEWSRTWPWAQMLRERRSRTLCEPSSPFCW MPMSALMTKSASSFSTSF*RMASRRKT*TN*SS TPRYPRRIVRSSPTWLTSACPSSPIPRCVAGASR SGRNASASRPTSSHGGLRLSRTSWRTLLRTNLT PNTTLISLPVPLPPSAPPPSAPAMGTGIRTRPQ ASTAVAPASSFSSLGV*A*MRCAAPTR*PRPTES GRC**DPHTSSPHRNCWTH*RN*IKQMKK*AVK KISRPSKTRPHPTALRSFPPPPASVPLRLLPPQ PCTPWLALLPLHSRVQ*CPLLV*NKRK*CIVFFK KSILYMYPKKRSSCAIGAQQEKFLDC*DEWTPS PRYLRFVTLYITLGDVHIAWVWNGRNLGVFKTL FGVVPVLVENHRDVCVLGVFHTED*SAIFIPVPT PQCLLSSK*PGR*QSGYLRRSKVEQTSLPFPAS HTPGSAAVGGGWGVCTKSGQRPPPQPVTAPSPA CVHSAVIPREVLQSKSQCPDR*EANSRWKPPSLW KNS*SGACGPGPSVPRHHPNSSFSLVRLRSRVR NGPEQMGSGGP*TEGYGCGEGSWPVGLTQTLYP LGKHLQSDYPQFQILHNTLCCVGSYIIVFVREDG HFILCIKLSSKAETKAANAGRLSRHPQDSAALI LQW*AHHLCCCCCREI**QWKSQKCPLPSPLAA LDLLQAMCVLLV**CPLKVLYASSAPPPPPFQSL LPALSARCIVVFSSQGFEISPCTEISRQISPRL PPNLYDLISLGRNRRHLRRASYSRCLFCPLPRT KQCSCFRTLFVEDVGFPFSVIYIKIIYQKDILKK LVCLETCLP*NYQNLSV*KY*STNIYHLCTILY *ST*V**IKKSAPLPGVQG

Frame 2

RLRGGELRLAQRAHLRRRRGPQASRDEEIGAGR LAQRHGPHWPQSCCRREDYA*CDKEGQEEGGME GAGGGSVKHEDAVLLLQDDRHHDRGHNDCGRYQ *AQRAAPQPGGCVSHHSIREVRPLSHQ*L*GPAD C*IPGCTRLLH*LLSRCPV**TGKIPSSQSHQN SDGNQYCISPV*IPGLFLGLC*LFPKLLQSPQG SDEESYTGAPGRADRDPLCHPEGVPGCAVSGGIQ GQCPAGSANPGQARCL*S**SNNGGGPRQGTLP APDPGSRL*PQLPCAP*IDFSGYEL*SAAYRK* CIQV*DQRHRGGTGEGGAPGRGRRPVDSTAPQAH RRGVPGSHPVSERFFF*QENEYWREDHHAGPVP DAEEDASVPERAQQVLHPPAPC*GLYEALPRHR RQTLPSGAGPGHGHRC*GREDQGPYASHRPHSAG CQCQHL*QNPHHPSLHLFEEWHHGGKPEQTDPA RPDTPGG**DHHQHGSPRRAHRHRFHAASPEQA GAEGTHQRADLPALTVDSDYQGHHGGHY*GQT*H QTLPLYLYPFLCLLQHHRRQRPLWALA*EQGPR RVPQWPPPHHFHPWGCEPE*DALRLRGDPGQRK VGGADRIHTHPHPTETAGHTEETE*NR*RNKQLK K*VAPPKHAPIPQRSAASHHRPPQFLCVCCLPS PARPGWHCCRCILVFSDALFLFETKENNALCFL KRVSYTCILKREAHVQLVHSRRNFWTVRMNGRLL PVI*DL*PCT*PWVTCTLLGYGTVEIWVFLKPC LGLFLSLLRIIEMSVFLEYFTLRTNLLSSFQSL PLSACSHPNNLGGDNQDISGGPRWNRPLCLSQRL IPPVVQLWVEAGVSARSQASVLLHSLSLPPPQP VSTVL*SRGKSSSLSHSALTGEKQTPAGSLHLF GKTVSLEPVAQALLSPGIIPTAHFP*SAFVQGSG MDQNRWVLEAPEQRAMAVEKVLGPLDSHRPCTL SASIFSQIILSFRYFIIPCVVWGHTSSCL*EKM VILFSV*NLALKQKLKQQMQEGCLAILKTQQLSF SSGEHTICAAAVVVKYNNSGSHKNVPCPAPSPP LTSCRPCVYYLSSDVLSKCCTRARRHLRLPFRA CSPPSLLAALWCSLLKALKSPLALRLVVRSLPVS LPTYTT*FP*DGTAGTCAGRLTPAACSVPSLGP NSAHASGPCLSKMLVSLSLLFI*K*FIKRIF*K S*SVLKLVYLKIIRISVFESTEAQTYIISVPFCT KALESNK*RNQHPFPVSRG

Sequence NM_003165

CGCGGCTGCGGGGCGGAGAGCTGCGGCTGGCCCAGCGCGCCCACCTGAGGAGGCGGCGGGGTCCGCAGGCGTCGCGGGACGAGGAGATCGGAGCCGGGAG ACTCGCGCAGCGCCATGGCCCCCATTGGCCTCAAAGCTGTTGTCGGAGAGAAGATTATGCATGATGTGATAAAGAAGGTCAAGAAGAAGGGGGAATGGAA GGTGCTGGTGGTGGATCAGTTAAGCATGAGGATGCTGTCCTCCTGCTGCAAGATGACAGACATCATGACCGAGGGCATAACGATTGTGGAAGATATCAAT AAGCGCAGAGAGCCGCTCCCCAGCCTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAGTCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGA CTGCTAAATACCGGGCTGCACACGTCTTCTTCACTGACTCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAAC TCTGACGGAAATCAATATTGCATTTCTCCCGTATGAATCCCAGGTCTATTCCTTGGACTCTGCTGACTCTTTCCAAAGCTTCTACAGTCCCCACAAGGCT CAGATGAAGAATCCTATACTGGAGCGCCTGGCAGAGCAGATCGCGACCCTTTGTGCCACCCTGAAGGAGTACCCGGCTGTGCGGTATCGGGGGGAATACA AGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGATGCCTATAAAGCTGATGATCCAACAATGGGGGAGGGCCCAGACAAGGCACGCTCCCA GCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCATGAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGAT GTATACAAGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTCCTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACA TCGCAGAGGTGTCCCAGGAAGTCACCCGGTCTCTGAAAGATTTTTCTTCTAGCAAGAGAATGAATACTGGAGAGAAGACCACCATGCGGGACCTGTCCCA GATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGTACTCCACCCACCTGCACCTTGCTGAGGACTGTATGAAGCATTACCAAGGCACCGTA GACAAACTCTGCCGAGTGGAGCAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGACCCTATGCGAGCCATCGTCCCCATTCTGCTGG ATGCCAATGTCAGCACTTATGACAAAATCCGCATCATCCTTCTCTACATCTTTTTGAAGAATGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCA CGCCCAGATACCCCCGGAGGATAGTGAGATCATCACCAACATGGCTCACCTCGGCGTGCCCATCGTCACCGATTCCACGCTGCGTCGCCGGAGCAAGCCG GAGCGGAAGGAACGCATCAGCGAGCAGACCTACCAGCTCTCACGGTGGACTCCGATTATCAAGGACATCATGGAGGACACTATTGAGGACAAACTTGACA CCAAACACTACCCTTATATCTCTACCCGTTCCTCTGCCTCCTTCAGCACCACCGCCGTCAGCGCCCGCTATGGGCACTGGCATAAGAACAAGGCCCCAGG CGAGTACCGCAGTGGCCCCCGCCTCATCATTTTCATCCTTGGGGGTGTGAGCCTGAATGAGATGCGCTGCGCCTACGAGGTGACCCAGGCCAACGGAAAG TGGGAGGTGCTGATAGGTTCTACTCACATTCTTACTCCCACCAAATTTCTCATGGACCTGAGACACCCCGACTTCAGGGAGTCCTCTAGGGTATCTTTTG AGGATCAGGCTCCAACAATGGAGTGAGAGCCAAAGAAACAAAGATCCACACACATCCTCACCCCACAGAAACTGCTGGACACACTGAAGAAACTGAATAA AACAGATGAAGAAATAAGCAGTTAAAAAAATAAGTCGCCCCTCCAAAACACGCCCCCATCCCACAGCGCTCCGCAGCTTCCCACCACCGCCCGCCTCAGT TCCTTTGCGTCTGTTGCCTCCCCAGCCCTGCACGCCCTGGCTGGCACTGTTGCCGCTGCATTCTCGTGTTCAGTGATGCCCTCTTCTTGTTTGAAACAAA AGAAAATAATGCATTGTGTTTTTTAAAAAGAGTATCTTATACATGTATCCTAAAAAGAGAAGCTCATGTGCAATTGGTGCACAGCAGGAGAAATTTCTGG ACTGTTAGGATGAATGGACGCCTTCTCCCCGTTATTTAAGATTTGTGACCTTGTACATAACCCTGGGTGACGTGCACATTGCTTGGGTATGGAACGGTAG AAATTTGGGTGTTTTTAAAACCTTGTTTGGGGTTGTTCCTGTCCTTGTTGAGAATCATAGAGATGTCTGTGTTCTTGGAGTATTTCACACTGAGGACTAA TCTGCTATCTTCATTCCAGTCCCTACCCCTCAGTGCCTGCTCTCATCCAAATAACCTGGGAGGTGACAATCAGGATATCTCAGGAGGTCCAAGGTGGAAC AGACCTCTTTGCCTTTCCCAGCGTCTCATACCCCCGGTAGTGCAGCTGTGGGTGGAGGCTGGGGTGTCTGCACGAAGTCAGGCCAGCGTCCTCCTCCACA GCCTGTCACTGCCCCCTCCCCAGCCTGTGTCCACAGTGCTGTGATCCCGAGGGAAGTCCTCCAGTCTAAGTCACAGTGCCCTGACAGGTGAGAAGCAAAC TCCCGCTGGAAGCCTCCATCTCTTTGGAAAAACAGTTAGTCTGGAGCCTGTGGCCCAGGCCCTTCTGTCCCCAGGCATCATCCCAACAGCTCATTTTCCC TAGTCCGCCTTCGTTCAAGGGTCAGGAATGGACCAGAACAGATGGGTTCTGGAGGCCCCTGAACAGAGGGCTATGGCTGTGGAGAAGGTTCTTGGCCCGT TGGACTCACACAGACCCTGTACCCTCTCGGCAAGCATCTTCAGTCAGATTATCCTCAGTTTCAGATACTTCATAATACCTTGTGTTGTGTGGGGTCATAC ATCATCGTGTTTGTAAGAGAAGATGGTCATTTTATTCTCTGTATAAAACTTAGCTCTAAAGCAGAAACTAAAGCAGCAAATGCAGGAAGGCTGTCTCGCC ATCCTCAAGACTCAGCAGCTCTCATTCTCCAGTGGTGAGCACACCATTTGTGCTGCTGCTGTTGTCGTGAAATATAATAACAGTGGAAGTCACAAAAATG TCCCCTGCCCAGCCCCCTCGCCGCCCTTGACCTCCTGCAGGCCATGTGTGTATTACTTGTCTAGTGATGTCCTCTCAAAGTGCTGTACGCGAGCTCGGCG CCACCTCCGCCTCCCTTTCAGAGCCTGCTCCCCGCCCTCTCTGCTCGCTGCATTGTGGTGTTCTCTTCTCAAGGCTTTGAAATCTCCCCTTGCACTGAGA TTAGTCGTCAGATCTCTCCCCGTCTCCCTCCCAACTTATACGACCTGATTTCCTTAGGACGGAACCGCAGGCACCTGCGCCGGGCGTCTTACTCCCGCTG CTTGTTCTGTCCCCTCCCTCGGACCAAACAGTGCTCATGCTTCAGGACCTTGTTTGTCGAAGATGTTGGTTTCCCTTTCTCTGTTATTTATATAAAAATA ATTTATCAAAAGGATATTTTAAAAAAGCTAGTCTGTCTTGAAACTTGTTTACCTTAAAATTATCAGAATCTCAGTGTTTGAAAGTACTGAAGCACAAACA TATATCATCTCTGTACCATTCTGTACTAAAGCACTTGAGTCTAATAAATAAAGAAATCAGCACCCCTTCCCGGTGTCCAGGGGG

refseq_STXBP1.F1 (forward primer)
refseq_STXBP1.R1 (reverse primer)
Single exon skipping

Frame 0

RGCGAESCGWPSAPT*GGGGVRRRRGTRRSEPG DSRSAMAPIGLKAVVGEKIMHDVIKKVKKKGEWK VLVVDQLSMRMLSSCCKMTDIMTEGITIVEDIN KRREPLPSLEAVYLITPSEKSVHSLISDFKDPP TAKYRAAHVFFTDSCPDALFNELVKSRAAKVIKT LTEINIAFLPYESQVYSLDSADSFQSFYSPHKA QMKNPILERLAEQIATLCATLKEYPAVRYRGEY KDNALLAQLIQDKLDAYKADDPTMGEGPDKARSQ LLILDRGFDPSSPVLHELTFQAMSYDLLPIEND VYKYETSGIGEARVKEVLLDEDDDLWIALRHKH IAEVSQEVTRSLKDFSSSKRMNTGEKTTMRDLSQ MLKKMPQYQKELSKYSTHLHLAEDCMKHYQGTV DKLCRVEQDLAMGTDAEGEKIKDPMRAIVPILL DANVSTYDKIRIILLYIFLKNGITEENLNKLIQH AQIPPEDSEIITNMAHLGVPIVTDSTLRRRSKP ERKERISEQTYQLSRWTPIIKDIMEDTIEDKLD TKHYPYISTRSSASFSTTAVSARYGHWHKNKAPG EYRSGPRLIIFILGGVSLNEMRCAYEVTQANGK WEVLIGSTHILTPTKFLMDLRHPDFRESSRVSF EDQAPTME*EPKKQRSTHILTPQKLLDTLKKLNK TDEEISS*KNKSPLQNTPPSHSAPQLPTTARLS SFASVASPALHALAGTVAAAFSCSVMPSSCLKQ KKIMHCVF*KEYLIHVS*KEKLMCNWCTAGEISG LLG*MDAFSPLFKICDLVHNPG*RAHCLGMER* KFGCF*NLVWGCSCPC*ES*RCLCSWSISH*GL ICYLHSSPYPSVPALIQITWEVTIRISQEVQGGT DLFAFPSVSYPR*CSCGWRLGCLHEVRPASSST ACHCPLPSLCPQCCDPEGSPPV*VTVP*QVRSK LPLEASISLEKQLVWSLWPRPFCPQASSQQLIFP SPPSFKGQEWTRTDGFWRPLNRGLWLWRRFLAR WTHTDPVPSRQASSVRLSSVSDTS*YLVLCGVI HHRVCKRRWSFYSLYKT*L*SRN*SSKCRKAVSP SSRLSSSHSPVVSTPFVLLLLS*NIITVEVTKM SPAQPPRRP*PPAGHVCITCLVMSSQSAVRELG ATSASLSEPAPRPLCSLHCGVLFSRL*NLPLH*D *SSDLSPSPSQLIRPDFLRTEPQAPAPGVLLPL LVLSPPSDQTVLMLQDLVCRRCWFPFLCYLYKN NLSKGYFKKASLS*NLFTLKLSESQCLKVLKHKH ISSLYHSVLKHLSLINKEISTPSRCPG

Frame 1

AAAGRRAAAGPARPPEEAAGSAGVAGRGDRSRE TRAAPWPPLASKLLSERRLCMM**RRSRRRGNG RCWWWIS*A*GCCPPAAR*QTS*PRA*RLWKISI SAESRSPAWRLCISSLHPRSPSTLSSVTLRTRR LLNTGLHTSSSLTLVQMPCLMNW*NPEQPKSSK L*RKSILHFSRMNPRSIPWTLLTLSKASTVPTRL R*RILYWSAWQSRSRPFVPP*RSTRLCGIGGNT RTMPCWLS*SRTSSMPIKLMIQQWGRAQTRHAP SS*SWIEALTPAPLCSMN*LFRL*VMICCLSKMM YTSMRPAASGRHG*RRCSWTRTTTCG*HCATST SQRCPRKSPGL*KIFLLARE*ILERRPPCGTCP RC*RRCLSTRKSSASTPPTCTLLRTV*SITKAP* TNSAEWSRTWPWAQMLRERRSRTLCEPSSPFCW MPMSALMTKSASSFSTSF*RMASRRKT*TN*SS TPRYPRRIVRSSPTWLTSACPSSPIPRCVAGASR SGRNASASRPTSSHGGLRLSRTSWRTLLRTNLT PNTTLISLPVPLPPSAPPPSAPAMGTGIRTRPQ ASTAVAPASSFSSLGV*A*MRCAAPTR*PRPTES GRC**VLLTFLLPPNFSWT*DTPTSGSPLGYLL RIRLQQWSESQRNKDPHTSSPHRNCWTH*RN*I KQMKK*AVKKISRPSKTRPHPTALRSFPPPPASV PLRLLPPQPCTPWLALLPLHSRVQ*CPLLV*NK RK*CIVFFKKSILYMYPKKRSSCAIGAQQEKFL DC*DEWTPSPRYLRFVTLYITLGDVHIAWVWNGR NLGVFKTLFGVVPVLVENHRDVCVLGVFHTED* SAIFIPVPTPQCLLSSK*PGR*QSGYLRRSKVE QTSLPFPASHTPGSAAVGGGWGVCTKSGQRPPPQ PVTAPSPACVHSAVIPREVLQSKSQCPDR*EAN SRWKPPSLWKNS*SGACGPGPSVPRHHPNSSFS LVRLRSRVRNGPEQMGSGGP*TEGYGCGEGSWPV GLTQTLYPLGKHLQSDYPQFQILHNTLCCVGSY IIVFVREDGHFILCIKLSSKAETKAANAGRLSR HPQDSAALILQW*AHHLCCCCCREI**QWKSQKC PLPSPLAALDLLQAMCVLLV**CPLKVLYASSA PPPPPFQSLLPALSARCIVVFSSQGFEISPCTE ISRQISPRLPPNLYDLISLGRNRRHLRRASYSRC LFCPLPRTKQCSCFRTLFVEDVGFPFSVIYIKI IYQKDILKKLVCLETCLP*NYQNLSV*KY*STN IYHLCTILY*ST*V**IKKSAPLPGVQG

Frame 2

RLRGGELRLAQRAHLRRRRGPQASRDEEIGAGR LAQRHGPHWPQSCCRREDYA*CDKEGQEEGGME GAGGGSVKHEDAVLLLQDDRHHDRGHNDCGRYQ *AQRAAPQPGGCVSHHSIREVRPLSHQ*L*GPAD C*IPGCTRLLH*LLSRCPV**TGKIPSSQSHQN SDGNQYCISPV*IPGLFLGLC*LFPKLLQSPQG SDEESYTGAPGRADRDPLCHPEGVPGCAVSGGIQ GQCPAGSANPGQARCL*S**SNNGGGPRQGTLP APDPGSRL*PQLPCAP*IDFSGYEL*SAAYRK* CIQV*DQRHRGGTGEGGAPGRGRRPVDSTAPQAH RRGVPGSHPVSERFFF*QENEYWREDHHAGPVP DAEEDASVPERAQQVLHPPAPC*GLYEALPRHR RQTLPSGAGPGHGHRC*GREDQGPYASHRPHSAG CQCQHL*QNPHHPSLHLFEEWHHGGKPEQTDPA RPDTPGG**DHHQHGSPRRAHRHRFHAASPEQA GAEGTHQRADLPALTVDSDYQGHHGGHY*GQT*H QTLPLYLYPFLCLLQHHRRQRPLWALA*EQGPR RVPQWPPPHHFHPWGCEPE*DALRLRGDPGQRK VGGADRFYSHSYSHQISHGPETPRLQGVL*GIF* GSGSNNGVRAKETKIHTHPHPTETAGHTEETE* NR*RNKQLKK*VAPPKHAPIPQRSAASHHRPPQ FLCVCCLPSPARPGWHCCRCILVFSDALFLFETK ENNALCFLKRVSYTCILKREAHVQLVHSRRNFW TVRMNGRLLPVI*DL*PCT*PWVTCTLLGYGTV EIWVFLKPCLGLFLSLLRIIEMSVFLEYFTLRTN LLSSFQSLPLSACSHPNNLGGDNQDISGGPRWN RPLCLSQRLIPPVVQLWVEAGVSARSQASVLLH SLSLPPPQPVSTVL*SRGKSSSLSHSALTGEKQT PAGSLHLFGKTVSLEPVAQALLSPGIIPTAHFP *SAFVQGSGMDQNRWVLEAPEQRAMAVEKVLGP LDSHRPCTLSASIFSQIILSFRYFIIPCVVWGHT SSCL*EKMVILFSV*NLALKQKLKQQMQEGCLA ILKTQQLSFSSGEHTICAAAVVVKYNNSGSHKN VPCPAPSPPLTSCRPCVYYLSSDVLSKCCTRARR HLRLPFRACSPPSLLAALWCSLLKALKSPLALR LVVRSLPVSLPTYTT*FP*DGTAGTCAGRLTPA ACSVPSLGPNSAHASGPCLSKMLVSLSLLFI*K* FIKRIF*KS*SVLKLVYLKIIRISVFESTEAQT YIISVPFCTKALESNK*RNQHPFPVSRG