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Sequences

Sequence NM_182638

GGTCCTACCCGGAAGCGCGCCCGGGCTCCTGCAGGCGGGGCGCTGTGCGCGCCGCGATCCGGTACGTGGGCCTCCGGGCTGTCCCCTCTGGGGGCGGCGA
TCCTCCCTCCGGAGCCCCCCTTCAACCCTCCCGGAAGTGAGCATTTGCAGGACCAGGGATGCTGTGCTGCTCTCCCATGAGCCAGTCACCGAGTCGGTCT
GCTGCAGCCCTTTCTGAACCTCTGGCCGTCTGGATGCTCCACTGTGCTTGCCAAGATGAAGTGCGTCTTGGTGGCCACTGAGGGCGCAGAGGTCCTCTTC
TACTGGACAGATCAGGAGTTTGAAGAGAGTCTCCGGCTGAAGTTCGGGCAGTCAGAGAATGAGGAAGAAGAGCTCCCTGCCCTGGAGGACCAGCTCAGCA
CCCTCCTAGCCCCGGTCATCATCTCCTCCATGACGATGCTGGAGAAGCTCTCGGACACCTACACCTGCTTCTCCACGGAAAATGGCAACTTCCTGTATGT
CCTTCACCTGGCTGCGGCCCCCAGACCTGGCGCAGCGTGTCCAGCTGTGGGAGCACTTCCAGAGCCTGCTGTGGACCTACAGCCGCCTGCGGGAGCAGGA
GCAGTGCTTCGCCGTGGAGCCACAGTGCCAGCTCCCTGCGCCCGGCCGACCTGCTTGCCCTCATCCTCCTGGTTCAGGACCTCTACCCCAGCGAGAGCAC
AGCAGAGGACGACATTCAGGAGACAGACAGCTTCTCCCTCCCTGAGGAGTACTTCACACCAGCTCCTTCCCCTGGCGATCAGAGCTCAGGTAGCACCATC
TGGCTGGAGGGGGGCACCCCCCCCATGGATGCCCTTCAGATAGCAGAGGACACCCTCCAAACACTGGTTCCCCACTGCCCTGTGCCTTCCGGCCCCAGAA
GGATCTTCCTGGATGCCAACGTGAAGGAAAGCTACTGCCCCCTAGTGCCCCACACCATGTACTGCCTGCCCCTGTGGCAGGGCATCAACCTGGTGCTCCT
GACCAGGAGCCCCAGCGCGCCCCTGGCCCTGGTTCTGTCCCAGCTGATGGATGGCTTCTCCATGCTGGAGAAGAAGCTGAAGGAAGGGCCGGAGCCCGGG
GCCTCCCTGCGCTCCCAGCCCCTCGTGGGAGACCTGCGCCAGAGGATGGACAAGTTTGTCAAGAATCGAGGGGCACAGGAGATTCAGAGCACCTGGCTGG
AGTTTAAGGCCAAGGCTTTCTCCAAAAGTGAGCCCGGATCCTCCTGGGAGCTGCTCCAGGCATGTGGGAAGCTGAAGCGGCAGCTCTGCGCCATCTACCG
GCTGAACTTTCTGACCACAGCCCCCAGCAGGGGAGGCCCACACCTGCCCCAGCACCTGCAGGACCAAGTGCAGAGGCTCATGCGGGAGAAGCTGACGGAC
TGGAAGGACTTCTTGCTGGTGAAGAGCAGGAGGAACATCACCATGGTGTCCTACCTAGAAGACTTCCCAGGCTTGGTGCACTTCATCTATGTGGACCGCA
CCACTGGGCAGATGGTGGCGCCTTCCCTCAACTGCAGTCAAAAGACCTCGTCGGAGTTGGGCAAGGGGCCGCTGGCTGCCTTTGTCAAAACTAAGGTCTG
GTCTCTGATCCAGCTGGCGCGCAGATACCTGCAGAAGGGCTACACCACGCTGCTGTTCCAGGAGGGGGATTTCTACTGCTCCTACTTCCTGTGGTTCGAG
AATGACATGGGGTACAAACTCCAGATGATCGAGGTGCCCGTCCTCTCCGACGACTCAGTGCCTATCGGCATGCTGGGAGGAGACTACTACAGGAAGCTCC
TGCGCTACTACAGCAAGAACCGCCCAACCGAGGCTGTCAGGTGCTACGAGCTGCTGGCCCTGCACCTGTCTGTCATCCCCACTGACCTGCTGGTGCAGCA
GGCCGGCCAGCTGGCCCGGCGCCTCTGGGAGGCCTCCCGTATCCCCCTGCTCTAGGCCAAGGTGGCCGCAGTCTGCCTTTGCATCCTGTCCTCCAGCCAC
CCTTGCTTGCCACTGTTCCCCATGACGAGAGCCTCCTGTCTGCAGTGGCCATCCTGAGGATAGGGCAGAGTGCCCAGGGTGGCCCCAGGGCTTCTAAAAC
CCCACCTAGACCACCCTCCATGTCAGGTACTGAGCAAGGCCCCAGATCCTTCTCTCTGGAGGAAGAGGGAAGCCCAGGGGTCCTGTTTGTAAAACAACGG
TGGCAACAGCTCCTCTTCCAGAGCTGCCTCTGCCTTTATCCTGGGAGATGGGGAGGAAGCCCCATCTCTGCTGTTCCCTGCGTGGAGGAAGCCCACCCAG
CAAGCTCTCTCCTACCCCAGGTAAAAGGTGCTCCTTTGCCTGGGTTTGAATTCCAGCGCTGCCACTTCCTCTCTGCACCTCCTGGCAAGTTTCTTCTATT
CCCCACGTTTAAAGCGATGGCACCTCCGTCCCAGGGTGGTGTGAGGATTACCCAGTGTGGTAGGTGCTCAATAAATGTTGGTCATTGTTATCACTGAAGC
CCAACATGCTAGTGCTTCTAGACCCTTCTGTCAGTGCTGATAAGCCCTTGCTAAGTCCCAGCCCCTTCATGCTTGGCTGGCGTCTGCCCTAGGGCTGGGG
TTCTCAAGCCCCTGGCCCTGGCCCAGAGATTTGGATTCCCTTGGCGGCCGTGGAGCCCAGCCTTTGATGTCTTTCAAAGCTTCTGTGGTGCGCCCTGGAT
TGAGAACCACCACCCGAGGGGTACAGCCCCTCTCTTCCAACCGAGAAGTTCCTGTCCCAGAATGGACCCAGGGACAAGAGACCCTGAGAGCCCTGGGACT
GGGAGTGTCTGCTCCTCTGAGGCCAGGAGGCCGGTGCTGGGCCAGAGAGGACGGCGTGGCGAAAGTCAGCGTCCACTGCAGCACAGGATCAGATGGCCGT
GTGCTGTGCATGCAGGAGCCTCGCCTTCTGTGTCTTTAGTCTTGAGCCAAAATTTGCTCAAAGACTGATCTCTTCCTTGCAGGGAACAGCTTTGGGGCTG
GGGGAACTAGAACCCACATGTTGGTCTAAACCCTGAGAAGGTGGCAGTGAGGAAGTATCCCCTCAGGTGACTGGATCTGTGTTCCTCCTTAACATCATCT
GATGGAATGGCAATGAAAAGCGTGGATTGTGGAAAATACAGAAAAACATAAAGGAAAAAACTCCAATCCCCTGAGCCCACCACTGTTCAGGACCCCTGCT
TTTGTCACCTACTATTTCCCTTTAGTTTTTAGCAGCGGCTGGATGTGATATGTCTAGTTTAACCAGTCCCCTTGATCTTTCTATATAATAAATAACACAG
GAGTGAACATCCTGAATCAG
  • refseq_HPS1.F2 (forward primer)
  • refseq_HPS1.R2 (reverse primer)
  • Single exon skipping

Frame 0

GPTRKRARAPAGGALCAPRSGTWASGLSPLGAA
ILPPEPPFNPPGSEHLQDQGCCAALP*ASHRVGL
LQPFLNLWPSGCSTVLAKMKCVLVATEGAEVLF
YWTDQEFEESLRLKFGQSENEEEELPALEDQLS
TLLAPVIISSMTMLEKLSDTYTCFSTENGNFLYV
LHLAAAPRPGAACPAVGALPEPAVDLQPPAGAG
AVLRRGATVPAPCARPTCLPSSSWFRTSTPARA
QQRTTFRRQTASPSLRSTSHQLLPLAIRAQVAPS
GWRGAPPPWMPFR*QRTPSKHWFPTALCLPAPE
GSSWMPT*RKATAP*CPTPCTACPCGRASTWCS
*PGAPARPWPWFCPS*WMASPCWRRS*RKGRSPG
PPCAPSPSWETCARGWTSLSRIEGHRRFRAPGW
SLRPRLSPKVSPDPPGSCSRHVGS*SGSSAPST
G*TF*PQPPAGEAHTCPSTCRTKCRGSCGRS*RT
GRTSCW*RAGGTSPWCPT*KTSQAWCTSSMWTA
PLGRWWRLPSTAVKRPRRSWARGRWLPLSKLRS
GL*SSWRADTCRRATPRCCSRRGISTAPTSCGSR
MTWGTNSR*SRCPSSPTTQCLSACWEETTTGSS
CATTARTAQPRLSGATSCWPCTCLSSPLTCWCS
RPASWPGASGRPPVSPCSRPRWPQSAFASCPPAT
LACHCSP*REPPVCSGHPEDRAECPGWPQGF*N
PT*TTLHVRY*ARPQILLSGGRGKPRGPVCKTT
VATAPLPELPLPLSWEMGRKPHLCCSLRGGSPPS
KLSPTPGKRCSFAWV*IPALPLPLCTSWQVSSI
PHV*SDGTSVPGWCEDYPVW*VLNKCWSLLSLK
PNMLVLLDPSVSADKPLLSPSPFMLGWRLP*GWG
SQAPGPGPEIWIPLAAVEPSL*CLSKLLWCALD
*EPPPEGYSPSLPTEKFLSQNGPRDKRP*EPWD
WECLLL*GQEAGAGPERTAWRKSASTAAQDQMAV
CCACRSLAFCVFSLEPKFAQRLISSLQGTALGL
GELEPTCWSKP*EGGSEEVSPQVTGSVFLLNII
*WNGNEKRGLWKIQKNIKEKTPIP*AHHCSGPLL
LSPTISL*FLAAAGCDMSSLTSPLDLSI**ITQ
E*TS*I

Frame 1

VLPGSAPGLLQAGRCARRDPVRGPPGCPLWGRR
SSLRSPPSTLPEVSICRTRDAVLLSHEPVTESV
CCSPF*TSGRLDAPLCLPR*SASWWPLRAQRSSS
TGQIRSLKRVSG*SSGSQRMRKKSSLPWRTSSA
PS*PRSSSPP*RCWRSSRTPTPASPRKMATSCM
SFTWLRPPDLAQRVQLWEHFQSLLWTYSRLREQE
QCFAVEPQCQLPAPGRPACPHPPGSGPLPQREH
SRGRHSGDRQLLPP*GVLHTSSFPWRSELR*HH
LAGGGHPPHGCPSDSRGHPPNTGSPLPCAFRPQK
DLPGCQREGKLLPPSAPHHVLPAPVAGHQPGAP
DQEPQRAPGPGSVPADGWLLHAGEEAEGRAGAR
GLPALPAPRGRPAPEDGQVCQESRGTGDSEHLAG
V*GQGFLQK*ARILLGAAPGMWEAEAAALRHLP
AELSDHSPQQGRPTPAPAPAGPSAEAHAGEADG
LEGLLAGEEQEEHHHGVLPRRLPRLGALHLCGPH
HWADGGAFPQLQSKDLVGVGQGAAGCLCQN*GL
VSDPAGAQIPAEGLHHAAVPGGGFLLLLLPVVR
E*HGVQTPDDRGARPLRRLSAYRHAGRRLLQEAP
ALLQQEPPNRGCQVLRAAGPAPVCHPH*PAGAA
GRPAGPAPLGGLPYPPALGQGGRSLPLHPVLQP
PLLATVPHDESLLSAVAILRIGQSAQGGPRASKT
PPRPPSMSGTEQGPRSFSLEEEGSPGVLFVKQR
WQQLLFQSCLCLYPGRWGGSPISAVPCVEEAHP
ASSLLPQVKGAPLPGFEFQRCHFLSAPPGKFLLF
PTFKAMAPPSQGGVRITQCGRCSINVGHCYH*S
PTC*CF*TLLSVLISPC*VPAPSCLAGVCPRAG
VLKPLALAQRFGFPWRPWSPAFDVFQSFCGAPWI
ENHHPRGTAPLFQPRSSCPRMDPGTRDPESPGT
GSVCSSEARRPVLGQRGRRGESQRPLQHRIRWP
CAVHAGASPSVSLVLSQNLLKD*SLPCREQLWGW
GN*NPHVGLNPEKVAVRKYPLR*LDLCSSLTSS
DGMAMKSVDCGKYRKT*RKKLQSPEPTTVQDPC
FCHLLFPFSF*QRLDVICLV*PVPLIFLYNK*HR
SEHPES

Frame 2

SYPEARPGSCRRGAVRAAIRYVGLRAVPSGGGD
PPSGAPLQPSRK*AFAGPGMLCCSPMSQSPSRS
AAALSEPLAVWMLHCACQDEVRLGGH*GRRGPL
LLDRSGV*RESPAEVRAVRE*GRRAPCPGGPAQH
PPSPGHHLLHDDAGEALGHLHLLLHGKWQLPVC
PSPGCGPQTWRSVSSCGSTSRACCGPTAACGSR
SSASPWSHSASSLRPADLLALILLVQDLYPSEST
AEDDIQETDSFSLPEEYFTPAPSPGDQSSGSTI
WLEGGTPPMDALQIAEDTLQTLVPHCPVPSGPR
RIFLDANVKESYCPLVPHTMYCLPLWQGINLVLL
TRSPSAPLALVLSQLMDGFSMLEKKLKEGPEPG
ASLRSQPLVGDLRQRMDKFVKNRGAQEIQSTWL
EFKAKAFSKSEPGSSWELLQACGKLKRQLCAIYR
LNFLTTAPSRGGPHLPQHLQDQVQRLMREKLTD
WKDFLLVKSRRNITMVSYLEDFPGLVHFIYVDR
TTGQMVAPSLNCSQKTSSELGKGPLAAFVKTKVW
SLIQLARRYLQKGYTTLLFQEGDFYCSYFLWFE
NDMGYKLQMIEVPVLSDDSVPIGMLGGDYYRKL
LRYYSKNRPTEAVRCYELLALHLSVIPTDLLVQQ
AGQLARRLWEASRIPLL*AKVAAVCLCILSSSH
PCLPLFPMTRASCLQWPS*G*GRVPRVAPGLLK
PHLDHPPCQVLSKAPDPSLWRKREAQGSCL*NNG
GNSSSSRAASAFILGDGEEAPSLLFPAWRKPTQ
QALSYPR*KVLLCLGLNSSAATSSLHLLASFFY
SPRLKRWHLRPRVV*GLPSVVGAQ*MLVIVITEA
QHASASRPFCQC**ALAKSQPLHAWLASALGLG
FSSPWPWPRDLDSLGGRGAQPLMSFKASVVRPG
LRTTTRGVQPLSSNREVPVPEWTQGQETLRALGL
GVSAPLRPGGRCWAREDGVAKVSVHCSTGSDGR
VLCMQEPRLLCL*S*AKICSKTDLFLAGNSFGA
GGTRTHMLV*TLRRWQ*GSIPSGDWICVPP*HHL
MEWQ*KAWIVENTEKHKGKNSNPLSPPLFRTPA
FVTYYFPLVFSSGWM*YV*FNQSP*SFYIINNT
GVNILNQ

Sequence NM_000195

GGTCCTACCCGGAAGCGCGCCCGGGCTCCTGCAGGCGGGGCGCTGTGCGCGCCGCGATCCGGTACGTGGGCCTCCGGGCTGTCCCCTCTGGGGGCGGCGA
TCCTCCCTCCGGAGCCCCCCTTCAACCCTCCCGGAAGTGAGGACCAGGGATGCTGTGCTGCTCTCCCATGAGCCAGTCACCGAGTCGGTCTGCTGCAGCC
CTTTCTGAACCTCTGGCCGTCTGGATGCTCCACTGTGCTTGCCAAGATGAAGTGCGTCTTGGTGGCCACTGAGGGCGCAGAGGTCCTCTTCTACTGGACA
GATCAGGAGTTTGAAGAGAGTCTCCGGCTGAAGTTCGGGCAGTCAGAGAATGAGGAAGAAGAGCTCCCTGCCCTGGAGGACCAGCTCAGCACCCTCCTAG
CCCCGGTCATCATCTCCTCCATGACGATGCTGGAGAAGCTCTCGGACACCTACACCTGCTTCTCCACGGAAAATGGCAACTTCCTGTATGTCCTTCACCT
GTTTGGAGAATGCCTGTTCATTGCCATCAATGGTGACCACACCGAGAGCGAGGGGGACCTGCGGCGGAAGCTGTATGTGCTCAAGTACCTGTTTGAAGTG
CACTTTGGGCTGGTGACTGTGGACGGTCATCTTATCCGAAAGGA
GCTGCGGCCCCCAGACCTGGCGCAGCGTGTCCAGCTGTGGGAGCACTTCCAGAGCC
TGCTGTGGACCTACAGCCGCCTGCGGGAGCAGGAGCAGTGCTTCGCCGTGGAGGCCCTGGAGCGACTGATTCACCCCCAGCTCTGTGAGCTGTGCATAGA
GGCGCTGGAGCGGCACGTCATCCAGGCTGTCAACACCAGCCCCGAGCGGGGAGGCGAGGAGGCCCTGCATGCCTTCCTGCTCGTGCACTCCAAGCTGCTG
GCATTCTACTCTAGCCACAGTGCCAGCTCCCTGCGCCCGGCCGACCTGCTTGCCCTCATCCTCCTGGTTCAGGACCTCTACCCCAGCGAGAGCACAGCAG
AGGACGACATTCAGCCTTCCCCGCGGAGGGCCCGGAGCAGCCAGAACATCCCCGTGCAGCAGGCCTGGAGCCCTCACTCCACGGGCCCAACTGGGGGGAG
CTCTGCAGAGACGGAGACAGACAGCTTCTCCCTCCCTGAGGAGTACTTCACACCAGCTCCTTCCCCTGGCGATCAGAGCTCAGGTAGCACCATCTGGCTG
GAGGGGGGCACCCCCCCCATGGATGCCCTTCAGATAGCAGAGGACACCCTCCAAACACTGGTTCCCCACTGCCCTGTGCCTTCCGGCCCCAGAAGGATCT
TCCTGGATGCCAACGTGAAGGAAAGCTACTGCCCCCTAGTGCCCCACACCATGTACTGCCTGCCCCTGTGGCAGGGCATCAACCTGGTGCTCCTGACCAG
GAGCCCCAGCGCGCCCCTGGCCCTGGTTCTGTCCCAGCTGATGGATGGCTTCTCCATGCTGGAGAAGAAGCTGAAGGAAGGGCCGGAGCCCGGGGCCTCC
CTGCGCTCCCAGCCCCTCGTGGGAGACCTGCGCCAGAGGATGGACAAGTTTGTCAAGAATCGAGGGGCACAGGAGATTCAGAGCACCTGGCTGGAGTTTA
AGGCCAAGGCTTTCTCCAAAAGTGAGCCCGGATCCTCCTGGGAGCTGCTCCAGGCATGTGGGAAGCTGAAGCGGCAGCTCTGCGCCATCTACCGGCTGAA
CTTTCTGACCACAGCCCCCAGCAGGGGAGGCCCACACCTGCCCCAGCACCTGCAGGACCAAGTGCAGAGGCTCATGCGGGAGAAGCTGACGGACTGGAAG
GACTTCTTGCTGGTGAAGAGCAGGAGGAACATCACCATGGTGTCCTACCTAGAAGACTTCCCAGGCTTGGTGCACTTCATCTATGTGGACCGCACCACTG
GGCAGATGGTGGCGCCTTCCCTCAACTGCAGTCAAAAGACCTCGTCGGAGTTGGGCAAGGGGCCGCTGGCTGCCTTTGTCAAAACTAAGGTCTGGTCTCT
GATCCAGCTGGCGCGCAGATACCTGCAGAAGGGCTACACCACGCTGCTGTTCCAGGAGGGGGATTTCTACTGCTCCTACTTCCTGTGGTTCGAGAATGAC
ATGGGGTACAAACTCCAGATGATCGAGGTGCCCGTCCTCTCCGACGACTCAGTGCCTATCGGCATGCTGGGAGGAGACTACTACAGGAAGCTCCTGCGCT
ACTACAGCAAGAACCGCCCAACCGAGGCTGTCAGGTGCTACGAGCTGCTGGCCCTGCACCTGTCTGTCATCCCCACTGACCTGCTGGTGCAGCAGGCCGG
CCAGCTGGCCCGGCGCCTCTGGGAGGCCTCCCGTATCCCCCTGCTCTAGGCCAAGGTGGCCGCAGTCTGCCTTTGCATCCTGTCCTCCAGCCACCCTTGC
TTGCCACTGTTCCCCATGACGAGAGCCTCCTGTCTGCAGTGGCCATCCTGAGGATAGGGCAGAGTGCCCAGGGTGGCCCCAGGGCTTCTAAAACCCCACC
TAGACCACCCTCCATGTCAGGTACTGAGCAAGGCCCCAGATCCTTCTCTCTGGAGGAAGAGGGAAGCCCAGGGGTCCTGTTTGTAAAACAACGGTGGCAA
CAGCTCCTCTTCCAGAGCTGCCTCTGCCTTTATCCTGGGAGATGGGGAGGAAGCCCCATCTCTGCTGTTCCCTGCGTGGAGGAAGCCCACCCAGCAAGCT
CTCTCCTACCCCAGGTAAAAGGTGCTCCTTTGCCTGGGTTTGAATTCCAGCGCTGCCACTTCCTCTCTGCACCTCCTGGCAAGTTTCTTCTATTCCCCAC
GTTTAAAGCGATGGCACCTCCGTCCCAGGGTGGTGTGAGGATTACCCAGTGTGGTAGGTGCTCAATAAATGTTGGTCATTGTTATCACTGAAGCCCAACA
TGCTAGTGCTTCTAGACCCTTCTGTCAGTGCTGATAAGCCCTTGCTAAGTCCCAGCCCCTTCATGCTTGGCTGGCGTCTGCCCTAGGGCTGGGGTTCTCA
AGCCCCTGGCCCTGGCCCAGAGATTTGGATTCCCTTGGCGGCCGTGGAGCCCAGCCTTTGATGTCTTTCAAAGCTTCTGTGGTGCGCCCTGGATTGAGAA
CCACCACCCGAGGGGTACAGCCCCTCTCTTCCAACCGAGAAGTTCCTGTCCCAGAATGGACCCAGGGACAAGAGACCCTGAGAGCCCTGGGACTGGGAGT
GTCTGCTCCTCTGAGGCCAGGAGGCCGGTGCTGGGCCAGAGAGGACGGCGTGGCGAAAGTCAGCGTCCACTGCAGCACAGGATCAGATGGCCGTGTGCTG
TGCATGCAGGAGCCTCGCCTTCTGTGTCTTTAGTCTTGAGCCAAAATTTGCTCAAAGACTGATCTCTTCCTTGCAGGGAACAGCTTTGGGGCTGGGGGAA
CTAGAACCCACATGTTGGTCTAAACCCTGAGAAGGTGGCAGTGAGGAAGTATCCCCTCAGGTGACTGGATCTGTGTTCCTCCTTAACATCATCTGATGGA
ATGGCAATGAAAAGCGTGGATTGTGGAAAATACAGAAAAACATAAAGGAAAAAACTCCAATCCCCTGAGCCCACCACTGTTCAGGACCCCTGCTTTTGTC
ACCTACTATTTCCCTTTAGTTTTTAGCAGCGGCTGGATGTGATATGTCTAGTTTAACCAGTCCCCTTGATCTTTCTATATAATAAATAACACAGGAGTGA
ACATCCTGAATCAG
  • refseq_HPS1.F2 (forward primer)
  • refseq_HPS1.R2 (reverse primer)
  • Single exon skipping

Frame 0

GPTRKRARAPAGGALCAPRSGTWASGLSPLGAA
ILPPEPPFNPPGSEDQGCCAALP*ASHRVGLLQP
FLNLWPSGCSTVLAKMKCVLVATEGAEVLFYWT
DQEFEESLRLKFGQSENEEEELPALEDQLSTLL
APVIISSMTMLEKLSDTYTCFSTENGNFLYVLHL
FGECLFIAINGDHTESEGDLRRKLYVLKYLFEV
HFGLVTVDGHLIRKE
LRPPDLAQRVQLWEHFQS
LLWTYSRLREQEQCFAVEALERLIHPQLCELCIE
ALERHVIQAVNTSPERGGEEALHAFLLVHSKLL
AFYSSHSASSLRPADLLALILLVQDLYPSESTA
EDDIQPSPRRARSSQNIPVQQAWSPHSTGPTGGS
SAETETDSFSLPEEYFTPAPSPGDQSSGSTIWL
EGGTPPMDALQIAEDTLQTLVPHCPVPSGPRRI
FLDANVKESYCPLVPHTMYCLPLWQGINLVLLTR
SPSAPLALVLSQLMDGFSMLEKKLKEGPEPGAS
LRSQPLVGDLRQRMDKFVKNRGAQEIQSTWLEF
KAKAFSKSEPGSSWELLQACGKLKRQLCAIYRLN
FLTTAPSRGGPHLPQHLQDQVQRLMREKLTDWK
DFLLVKSRRNITMVSYLEDFPGLVHFIYVDRTT
GQMVAPSLNCSQKTSSELGKGPLAAFVKTKVWSL
IQLARRYLQKGYTTLLFQEGDFYCSYFLWFEND
MGYKLQMIEVPVLSDDSVPIGMLGGDYYRKLLR
YYSKNRPTEAVRCYELLALHLSVIPTDLLVQQAG
QLARRLWEASRIPLL*AKVAAVCLCILSSSHPC
LPLFPMTRASCLQWPS*G*GRVPRVAPGLLKPH
LDHPPCQVLSKAPDPSLWRKREAQGSCL*NNGGN
SSSSRAASAFILGDGEEAPSLLFPAWRKPTQQA
LSYPR*KVLLCLGLNSSAATSSLHLLASFFYSP
RLKRWHLRPRVV*GLPSVVGAQ*MLVIVITEAQH
ASASRPFCQC**ALAKSQPLHAWLASALGLGFS
SPWPWPRDLDSLGGRGAQPLMSFKASVVRPGLR
TTTRGVQPLSSNREVPVPEWTQGQETLRALGLGV
SAPLRPGGRCWAREDGVAKVSVHCSTGSDGRVL
CMQEPRLLCL*S*AKICSKTDLFLAGNSFGAGG
TRTHMLV*TLRRWQ*GSIPSGDWICVPP*HHLME
WQ*KAWIVENTEKHKGKNSNPLSPPLFRTPAFV
TYYFPLVFSSGWM*YV*FNQSP*SFYIINNTGV
NILNQ

Frame 1

VLPGSAPGLLQAGRCARRDPVRGPPGCPLWGRR
SSLRSPPSTLPEVRTRDAVLLSHEPVTESVCCS
PF*TSGRLDAPLCLPR*SASWWPLRAQRSSSTGQ
IRSLKRVSG*SSGSQRMRKKSSLPWRTSSAPS*
PRSSSPP*RCWRSSRTPTPASPRKMATSCMSFT
CLENACSLPSMVTTPRARGTCGGSCMCSSTCLKC
TLGW*LWTVILSER
SCGPQTWRSVSSCGSTSRA
CCGPTAACGSRSSASPWRPWSD*FTPSSVSCA*
RRWSGTSSRLSTPAPSGEARRPCMPSCSCTPSCW
HSTLATVPAPCARPTCLPSSSWFRTSTPARAQQ
RTTFSLPRGGPGAARTSPCSRPGALTPRAQLGG
ALQRRRQTASPSLRSTSHQLLPLAIRAQVAPSGW
RGAPPPWMPFR*QRTPSKHWFPTALCLPAPEGS
SWMPT*RKATAP*CPTPCTACPCGRASTWCS*P
GAPARPWPWFCPS*WMASPCWRRS*RKGRSPGPP
CAPSPSWETCARGWTSLSRIEGHRRFRAPGWSL
RPRLSPKVSPDPPGSCSRHVGS*SGSSAPSTG*
TF*PQPPAGEAHTCPSTCRTKCRGSCGRS*RTGR
TSCW*RAGGTSPWCPT*KTSQAWCTSSMWTAPL
GRWWRLPSTAVKRPRRSWARGRWLPLSKLRSGL
*SSWRADTCRRATPRCCSRRGISTAPTSCGSRMT
WGTNSR*SRCPSSPTTQCLSACWEETTTGSSCA
TTARTAQPRLSGATSCWPCTCLSSPLTCWCSRP
ASWPGASGRPPVSPCSRPRWPQSAFASCPPATLA
CHCSP*REPPVCSGHPEDRAECPGWPQGF*NPT
*TTLHVRY*ARPQILLSGGRGKPRGPVCKTTVA
TAPLPELPLPLSWEMGRKPHLCCSLRGGSPPSKL
SPTPGKRCSFAWV*IPALPLPLCTSWQVSSIPH
V*SDGTSVPGWCEDYPVW*VLNKCWSLLSLKPN
MLVLLDPSVSADKPLLSPSPFMLGWRLP*GWGSQ
APGPGPEIWIPLAAVEPSL*CLSKLLWCALD*E
PPPEGYSPSLPTEKFLSQNGPRDKRP*EPWDWE
CLLL*GQEAGAGPERTAWRKSASTAAQDQMAVCC
ACRSLAFCVFSLEPKFAQRLISSLQGTALGLGE
LEPTCWSKP*EGGSEEVSPQVTGSVFLLNII*W
NGNEKRGLWKIQKNIKEKTPIP*AHHCSGPLLLS
PTISL*FLAAAGCDMSSLTSPLDLSI**ITQE*
TS*I

Frame 2

SYPEARPGSCRRGAVRAAIRYVGLRAVPSGGGD
PPSGAPLQPSRK*GPGMLCCSPMSQSPSRSAAA
LSEPLAVWMLHCACQDEVRLGGH*GRRGPLLLD
RSGV*RESPAEVRAVRE*GRRAPCPGGPAQHPPS
PGHHLLHDDAGEALGHLHLLLHGKWQLPVCPSP
VWRMPVHCHQW*PHRERGGPAAEAVCAQVPV*S
ALWAGDCGRSSYPKG
AAAPRPGAACPAVGALPEP
AVDLQPPAGAGAVLRRGGPGATDSPPAL*AVHR
GAGAARHPGCQHQPRAGRRGGPACLPARALQAA
GILL*PQCQLPAPGRPACPHPPGSGPLPQREHSR
GRHSAFPAEGPEQPEHPRAAGLEPSLHGPNWGE
LCRDGDRQLLPP*GVLHTSSFPWRSELR*HHLA
GGGHPPHGCPSDSRGHPPNTGSPLPCAFRPQKDL
PGCQREGKLLPPSAPHHVLPAPVAGHQPGAPDQ
EPQRAPGPGSVPADGWLLHAGEEAEGRAGARGL
PALPAPRGRPAPEDGQVCQESRGTGDSEHLAGV*
GQGFLQK*ARILLGAAPGMWEAEAAALRHLPAE
LSDHSPQQGRPTPAPAPAGPSAEAHAGEADGLE
GLLAGEEQEEHHHGVLPRRLPRLGALHLCGPHHW
ADGGAFPQLQSKDLVGVGQGAAGCLCQN*GLVS
DPAGAQIPAEGLHHAAVPGGGFLLLLLPVVRE*
HGVQTPDDRGARPLRRLSAYRHAGRRLLQEAPAL
LQQEPPNRGCQVLRAAGPAPVCHPH*PAGAAGR
PAGPAPLGGLPYPPALGQGGRSLPLHPVLQPPL
LATVPHDESLLSAVAILRIGQSAQGGPRASKTPP
RPPSMSGTEQGPRSFSLEEEGSPGVLFVKQRWQ
QLLFQSCLCLYPGRWGGSPISAVPCVEEAHPAS
SLLPQVKGAPLPGFEFQRCHFLSAPPGKFLLFPT
FKAMAPPSQGGVRITQCGRCSINVGHCYH*SPT
C*CF*TLLSVLISPC*VPAPSCLAGVCPRAGVL
KPLALAQRFGFPWRPWSPAFDVFQSFCGAPWIEN
HHPRGTAPLFQPRSSCPRMDPGTRDPESPGTGS
VCSSEARRPVLGQRGRRGESQRPLQHRIRWPCA
VHAGASPSVSLVLSQNLLKD*SLPCREQLWGWGN
*NPHVGLNPEKVAVRKYPLR*LDLCSSLTSSDG
MAMKSVDCGKYRKT*RKKLQSPEPTTVQDPCFC
HLLFPFSF*QRLDVICLV*PVPLIFLYNK*HRSE
HPES

Sequence NM_182637

GGTCCTACCCGGAAGCGCGCCCGGGCTCCTGCAGGCGGGGCGCTGTGCGCGCCGCGATCCGGTACGTGGGCCTCCGGGCTGTCCCCTCTGGGGGCGGCGA
TCCTCCCTCCGGAGCCCCCCTTCAACCCTCCCGGAAGTGAGCATTTGCAGGACCAGGGATGCTGTGCTGCTCTCCCATGAGCCAGTCACCGAGTCGGTCT
GCTGCAGCCCTTTCTGAACCTCTGGCCGTCTGGATGCTCCACTGTGCTTGCCAAGATGAAGTGCGTCTTGGTGGCCACTGAGGGCGCAGAGGTCCTCTTC
TACTGGACAGATCAGGAGTTTGAAGAGAGTCTCCGGCTGAAGTTCGGGCAGTCAGAGAATGAGGAAGAAGAGCTCCCTGCCCTGGAGGACCAGCTCAGCA
CCCTCCTAGCCCCGGTCATCATCTCCTCCATGACGATGCTGGAGAAGCTCTCGGACACCTACACCTGCTTCTCCACGGAAAATGGCAACTTCCTGTATGT
CCTTCACCTGTTTGGAGAATGCCTGTTCATTGCCATCAATGGTGACCACACCGAGAGCGAGGGGGACCTGCGGCGGAAGCTGTATGTGCTCAAGTACCTG
TTTGAAGTGCACTTTGGGCTGGTGACTGTGGACGGTCATCTTATCCGAAAGGA
GCTGCGGCCCCCAGACCTGGCGCAGCGTGTCCAGCTGTGGGAGCACT
TCCAGAGCCTGCTGTGGACCTACAGCCGCCTGCGGGAGCAGGAGCAGTGCTTCGCCGTGGAGGTGACTACTGGGCGCGGGAGTCCTCAGGACTTGAAGCT
GTCAGGCCCTGGAGCGACTGATTCACCCCCAGCTCTGTGAGCTGTGCATAGAGGCGCTGGAGCGGCACGTCATCCAGGCTGTCAACACCAGCCCCGAGCG
GGGAGGCGAGGAGGCCCTGCATGCCTTCCTGCTCGTGCACTCCAAGCTGCTGGCATTCTACTCTAGCCACAGTGCCAGCTCCCTGCGCCCGGCCGACCTG
CTTGCCCTCATCCTCCTGGTTCAGGACCTCTACCCCAGCGAGAGCACAGCAGAGGACGACATTCAGGAGACAGACAGCTTCTCCCTCCCTGAGGAGTACT
TCACACCAGCTCCTTCCCCTGGCGATCAGAGCTCAGGTAGCACCATCTGGCTGGAGGGGGGCACCCCCCCCATGGATGCCCTTCAGATAGCAGAGGACAC
CCTCCAAACACTGGTTCCCCACTGCCCTGTGCCTTCCGGCCCCAGAAGGATCTTCCTGGATGCCAACGTGAAGGAAAGCTACTGCCCCCTAGTGCCCCAC
ACCATGTACTGCCTGCCCCTGTGGCAGGGCATCAACCTGGTGCTCCTGACCAGGAGCCCCAGCGCGCCCCTGGCCCTGGTTCTGTCCCAGCTGATGGATG
GCTTCTCCATGCTGGAGAAGAAGCTGAAGGAAGGGCCGGAGCCCGGGGCCTCCCTGCGCTCCCAGCCCCTCGTGGGAGACCTGCGCCAGAGGATGGACAA
GTTTGTCAAGAATCGAGGGGCACAGGAGATTCAGAGCACCTGGCTGGAGTTTAAGGCCAAGGCTTTCTCCAAAAGTGAGCCCGGATCCTCCTGGGAGCTG
CTCCAGGCATGTGGGAAGCTGAAGCGGCAGCTCTGCGCCATCTACCGGCTGAACTTTCTGACCACAGCCCCCAGCAGGGGAGGCCCACACCTGCCCCAGC
ACCTGCAGGACCAAGTGCAGAGGCTCATGCGGGAGAAGCTGACGGACTGGAAGGACTTCTTGCTGGTGAAGAGCAGGAGGAACATCACCATGGTGTCCTA
CCTAGAAGACTTCCCAGGCTTGGTGCACTTCATCTATGTGGACCGCACCACTGGGCAGATGGTGGCGCCTTCCCTCAACTGCAGTCAAAAGACCTCGTCG
GAGTTGGGCAAGGGGCCGCTGGCTGCCTTTGTCAAAACTAAGGTCTGGTCTCTGATCCAGCTGGCGCGCAGATACCTGCAGAAGGGCTACACCACGCTGC
TGTTCCAGGAGGGGGATTTCTACTGCTCCTACTTCCTGTGGTTCGAGAATGACATGGGGTACAAACTCCAGATGATCGAGGTGCCCGTCCTCTCCGACGA
CTCAGTGCCTATCGGCATGCTGGGAGGAGACTACTACAGGAAGCTCCTGCGCTACTACAGCAAGAACCGCCCAACCGAGGCTGTCAGGTGCTACGAGCTG
CTGGCCCTGCACCTGTCTGTCATCCCCACTGACCTGCTGGTGCAGCAGGCCGGCCAGCTGGCCCGGCGCCTCTGGGAGGCCTCCCGTATCCCCCTGCTCT
AGGCCAAGGTGGCCGCAGTCTGCCTTTGCATCCTGTCCTCCAGCCACCCTTGCTTGCCACTGTTCCCCATGACGAGAGCCTCCTGTCTGCAGTGGCCATC
CTGAGGATAGGGCAGAGTGCCCAGGGTGGCCCCAGGGCTTCTAAAACCCCACCTAGACCACCCTCCATGTCAGGTACTGAGCAAGGCCCCAGATCCTTCT
CTCTGGAGGAAGAGGGAAGCCCAGGGGTCCTGTTTGTAAAACAACGGTGGCAACAGCTCCTCTTCCAGAGCTGCCTCTGCCTTTATCCTGGGAGATGGGG
AGGAAGCCCCATCTCTGCTGTTCCCTGCGTGGAGGAAGCCCACCCAGCAAGCTCTCTCCTACCCCAGGTAAAAGGTGCTCCTTTGCCTGGGTTTGAATTC
CAGCGCTGCCACTTCCTCTCTGCACCTCCTGGCAAGTTTCTTCTATTCCCCACGTTTAAAGCGATGGCACCTCCGTCCCAGGGTGGTGTGAGGATTACCC
AGTGTGGTAGGTGCTCAATAAATGTTGGTCATTGTTATCACTGAAGCCCAACATGCTAGTGCTTCTAGACCCTTCTGTCAGTGCTGATAAGCCCTTGCTA
AGTCCCAGCCCCTTCATGCTTGGCTGGCGTCTGCCCTAGGGCTGGGGTTCTCAAGCCCCTGGCCCTGGCCCAGAGATTTGGATTCCCTTGGCGGCCGTGG
AGCCCAGCCTTTGATGTCTTTCAAAGCTTCTGTGGTGCGCCCTGGATTGAGAACCACCACCCGAGGGGTACAGCCCCTCTCTTCCAACCGAGAAGTTCCT
GTCCCAGAATGGACCCAGGGACAAGAGACCCTGAGAGCCCTGGGACTGGGAGTGTCTGCTCCTCTGAGGCCAGGAGGCCGGTGCTGGGCCAGAGAGGACG
GCGTGGCGAAAGTCAGCGTCCACTGCAGCACAGGATCAGATGGCCGTGTGCTGTGCATGCAGGAGCCTCGCCTTCTGTGTCTTTAGTCTTGAGCCAAAAT
TTGCTCAAAGACTGATCTCTTCCTTGCAGGGAACAGCTTTGGGGCTGGGGGAACTAGAACCCACATGTTGGTCTAAACCCTGAGAAGGTGGCAGTGAGGA
AGTATCCCCTCAGGTGACTGGATCTGTGTTCCTCCTTAACATCATCTGATGGAATGGCAATGAAAAGCGTGGATTGTGGAAAATACAGAAAAACATAAAG
GAAAAAACTCCAATCCCCTGAGCCCACCACTGTTCAGGACCCCTGCTTTTGTCACCTACTATTTCCCTTTAGTTTTTAGCAGCGGCTGGATGTGATATGT
CTAGTTTAACCAGTCCCCTTGATCTTTCTATATAATAAATAACACAGGAGTGAACATCCTGAATCAG
  • refseq_HPS1.F2 (forward primer)
  • refseq_HPS1.R2 (reverse primer)
  • Single exon skipping

Frame 0

GPTRKRARAPAGGALCAPRSGTWASGLSPLGAA
ILPPEPPFNPPGSEHLQDQGCCAALP*ASHRVGL
LQPFLNLWPSGCSTVLAKMKCVLVATEGAEVLF
YWTDQEFEESLRLKFGQSENEEEELPALEDQLS
TLLAPVIISSMTMLEKLSDTYTCFSTENGNFLYV
LHLFGECLFIAINGDHTESEGDLRRKLYVLKYL
FEVHFGLVTVDGHLIRKE
LRPPDLAQRVQLWEH
FQSLLWTYSRLREQEQCFAVEVTTGRGSPQDLKL
SGPGATDSPPAL*AVHRGAGAARHPGCQHQPRA
GRRGGPACLPARALQAAGILL*PQCQLPAPGRP
ACPHPPGSGPLPQREHSRGRHSGDRQLLPP*GVL
HTSSFPWRSELR*HHLAGGGHPPHGCPSDSRGH
PPNTGSPLPCAFRPQKDLPGCQREGKLLPPSAP
HHVLPAPVAGHQPGAPDQEPQRAPGPGSVPADGW
LLHAGEEAEGRAGARGLPALPAPRGRPAPEDGQ
VCQESRGTGDSEHLAGV*GQGFLQK*ARILLGA
APGMWEAEAAALRHLPAELSDHSPQQGRPTPAPA
PAGPSAEAHAGEADGLEGLLAGEEQEEHHHGVL
PRRLPRLGALHLCGPHHWADGGAFPQLQSKDLV
GVGQGAAGCLCQN*GLVSDPAGAQIPAEGLHHAA
VPGGGFLLLLLPVVRE*HGVQTPDDRGARPLRR
LSAYRHAGRRLLQEAPALLQQEPPNRGCQVLRA
AGPAPVCHPH*PAGAAGRPAGPAPLGGLPYPPAL
GQGGRSLPLHPVLQPPLLATVPHDESLLSAVAI
LRIGQSAQGGPRASKTPPRPPSMSGTEQGPRSF
SLEEEGSPGVLFVKQRWQQLLFQSCLCLYPGRWG
GSPISAVPCVEEAHPASSLLPQVKGAPLPGFEF
QRCHFLSAPPGKFLLFPTFKAMAPPSQGGVRIT
QCGRCSINVGHCYH*SPTC*CF*TLLSVLISPC*
VPAPSCLAGVCPRAGVLKPLALAQRFGFPWRPW
SPAFDVFQSFCGAPWIENHHPRGTAPLFQPRSS
CPRMDPGTRDPESPGTGSVCSSEARRPVLGQRGR
RGESQRPLQHRIRWPCAVHAGASPSVSLVLSQN
LLKD*SLPCREQLWGWGN*NPHVGLNPEKVAVR
KYPLR*LDLCSSLTSSDGMAMKSVDCGKYRKT*R
KKLQSPEPTTVQDPCFCHLLFPFSF*QRLDVIC
LV*PVPLIFLYNK*HRSEHPES

Frame 1

VLPGSAPGLLQAGRCARRDPVRGPPGCPLWGRR
SSLRSPPSTLPEVSICRTRDAVLLSHEPVTESV
CCSPF*TSGRLDAPLCLPR*SASWWPLRAQRSSS
TGQIRSLKRVSG*SSGSQRMRKKSSLPWRTSSA
PS*PRSSSPP*RCWRSSRTPTPASPRKMATSCM
SFTCLENACSLPSMVTTPRARGTCGGSCMCSSTC
LKCTLGW*LWTVILSER
SCGPQTWRSVSSCGST
SRACCGPTAACGSRSSASPWR*LLGAGVLRT*S
CQALERLIHPQLCELCIEALERHVIQAVNTSPER
GGEEALHAFLLVHSKLLAFYSSHSASSLRPADL
LALILLVQDLYPSESTAEDDIQETDSFSLPEEY
FTPAPSPGDQSSGSTIWLEGGTPPMDALQIAEDT
LQTLVPHCPVPSGPRRIFLDANVKESYCPLVPH
TMYCLPLWQGINLVLLTRSPSAPLALVLSQLMD
GFSMLEKKLKEGPEPGASLRSQPLVGDLRQRMDK
FVKNRGAQEIQSTWLEFKAKAFSKSEPGSSWEL
LQACGKLKRQLCAIYRLNFLTTAPSRGGPHLPQ
HLQDQVQRLMREKLTDWKDFLLVKSRRNITMVSY
LEDFPGLVHFIYVDRTTGQMVAPSLNCSQKTSS
ELGKGPLAAFVKTKVWSLIQLARRYLQKGYTTL
LFQEGDFYCSYFLWFENDMGYKLQMIEVPVLSDD
SVPIGMLGGDYYRKLLRYYSKNRPTEAVRCYEL
LALHLSVIPTDLLVQQAGQLARRLWEASRIPLL
*AKVAAVCLCILSSSHPCLPLFPMTRASCLQWPS
*G*GRVPRVAPGLLKPHLDHPPCQVLSKAPDPS
LWRKREAQGSCL*NNGGNSSSSRAASAFILGDG
EEAPSLLFPAWRKPTQQALSYPR*KVLLCLGLNS
SAATSSLHLLASFFYSPRLKRWHLRPRVV*GLP
SVVGAQ*MLVIVITEAQHASASRPFCQC**ALA
KSQPLHAWLASALGLGFSSPWPWPRDLDSLGGRG
AQPLMSFKASVVRPGLRTTTRGVQPLSSNREVP
VPEWTQGQETLRALGLGVSAPLRPGGRCWARED
GVAKVSVHCSTGSDGRVLCMQEPRLLCL*S*AKI
CSKTDLFLAGNSFGAGGTRTHMLV*TLRRWQ*G
SIPSGDWICVPP*HHLMEWQ*KAWIVENTEKHK
GKNSNPLSPPLFRTPAFVTYYFPLVFSSGWM*YV
*FNQSP*SFYIINNTGVNILNQ

Frame 2

SYPEARPGSCRRGAVRAAIRYVGLRAVPSGGGD
PPSGAPLQPSRK*AFAGPGMLCCSPMSQSPSRS
AAALSEPLAVWMLHCACQDEVRLGGH*GRRGPL
LLDRSGV*RESPAEVRAVRE*GRRAPCPGGPAQH
PPSPGHHLLHDDAGEALGHLHLLLHGKWQLPVC
PSPVWRMPVHCHQW*PHRERGGPAAEAVCAQVP
V*SALWAGDCGRSSYPKG
AAAPRPGAACPAVGAL
PEPAVDLQPPAGAGAVLRRGGDYWARESSGLEA
VRPWSD*FTPSSVSCA*RRWSGTSSRLSTPAPS
GEARRPCMPSCSCTPSCWHSTLATVPAPCARPTC
LPSSSWFRTSTPARAQQRTTFRRQTASPSLRST
SHQLLPLAIRAQVAPSGWRGAPPPWMPFR*QRT
PSKHWFPTALCLPAPEGSSWMPT*RKATAP*CPT
PCTACPCGRASTWCS*PGAPARPWPWFCPS*WM
ASPCWRRS*RKGRSPGPPCAPSPSWETCARGWT
SLSRIEGHRRFRAPGWSLRPRLSPKVSPDPPGSC
SRHVGS*SGSSAPSTG*TF*PQPPAGEAHTCPS
TCRTKCRGSCGRS*RTGRTSCW*RAGGTSPWCP
T*KTSQAWCTSSMWTAPLGRWWRLPSTAVKRPRR
SWARGRWLPLSKLRSGL*SSWRADTCRRATPRC
CSRRGISTAPTSCGSRMTWGTNSR*SRCPSSPT
TQCLSACWEETTTGSSCATTARTAQPRLSGATSC
WPCTCLSSPLTCWCSRPASWPGASGRPPVSPCS
RPRWPQSAFASCPPATLACHCSP*REPPVCSGH
PEDRAECPGWPQGF*NPT*TTLHVRY*ARPQILL
SGGRGKPRGPVCKTTVATAPLPELPLPLSWEMG
RKPHLCCSLRGGSPPSKLSPTPGKRCSFAWV*I
PALPLPLCTSWQVSSIPHV*SDGTSVPGWCEDYP
VW*VLNKCWSLLSLKPNMLVLLDPSVSADKPLL
SPSPFMLGWRLP*GWGSQAPGPGPEIWIPLAAV
EPSL*CLSKLLWCALD*EPPPEGYSPSLPTEKFL
SQNGPRDKRP*EPWDWECLLL*GQEAGAGPERT
AWRKSASTAAQDQMAVCCACRSLAFCVFSLEPK
FAQRLISSLQGTALGLGELEPTCWSKP*EGGSEE
VSPQVTGSVFLLNII*WNGNEKRGLWKIQKNIK
EKTPIP*AHHCSGPLLLSPTISL*FLAAAGCDM
SSLTSPLDLSI**ITQE*TS*I

Sequence NM_182639

GGTCCTACCCGGAAGCGCGCCCGGGCTCCTGCAGGCGGGGCGCTGTGCGCGCCGCGATCCGGTACGTGGGCCTCCGGGCTGTCCCCTCTGGGGGCGGCGA
TCCTCCCTCCGGAGCCCCCCTTCAACCCTCCCGGAAGTGAGCATTTGCAGGACCAGGGATGCTGTGCTGCTCTCCCATGAGCCAGTCACCGAGTCGGTCT
GCTGCAGCCCTTTCTGAACCTCTGGCCGTCTGGATGCTCCACTGTGCTTGCCAAGATGAAGTGCGTCTTGGTGGCCACTGAGGGCGCAGAGGTCCTCTTC
TACTGGACAGATCAGGAGTTTGAAGAGAGTCTCCGGCTGAAGTTCGGGCAGTCAGAGAATGAGGAAGAAGAGCTCCCTGCCCTGGAGGACCAGCTCAGCA
CCCTCCTAGCCCCGGTCATCATCTCCTCCATGACGATGCTGGAGAAGCTCTCGGACACCTACACCTGCTTCTCCACGGAAAATGGCAACTTCCTGTATGT
CCTTCACCTGTTTGGAGAATGCCTGTTCATTGCCATCAATGGTGACCACACCGAGAGCGAGGGGGACCTGCGGCGGAAGCTGTATGTGCTCAAGTACCTG
TTTGAAGTGCACTTTGGGCTGGTGACTGTGGACGGTCATCTTATCCGAAAGGA
GCTGCGGCCCCCAGACCTGGCGCAGCGTGTCCAGCTGTGGGAGCACT
TCCAGAGCCTGCTGTGGACCTACAGCCGCCTGCGGGAGCAGGAGCAGTGCTTCGCCGTGGAGGCCCTGGAGCGACTGATTCACCCCCAGCTCTGTGAGCT
GTGCATAGAGGCGCTGGAGCGGCACGTCATCCAGGCTGTCAACACCAGCCCCGAGCGGGGAGGCGAGGAGGCCCTGCATGCCTTCCTGCTCGTGCACTCC
AAGCTGCTGGCATTCTACTCTAGCCACAGTGCCAGCTCCCTGCGCCCGGCCGACCTGCTTGCCCTCATCCTCCTGGTTCAGGACCTCTACCCCAGCGAGA
GCACAGCAGAGGACGACATTCAGCCTTCCCCGCGGAGGGCCCGGAGCAGCCAGAACATCCCCGTGCAGCAGGCCTGGAGCCCTCACTCCACGGGCCCAAC
TGGGGGGAGCTCTGCAGAGACGGAGACAGACAGCTTCTCCCTCCCTGAGGAGTACTTCACACCAGCTCCTTCCCCTGGCGATCAGAGCTCAGGTGAGGAC
CGGAGGAAAGCAGGAGGAAACAATAGCTAGCTGCGAGCGACAGGCAGCCCAGGACATCTGTCTTAGGCTCCAGTGGACCCCCGTGCCTCCTAAGGCTTGA
GTGCAGGTACCCGTGTTCCTAGAGCACAGGACGCTGTCTGCGGCTCCCCATCTTCCCTGCCAGCTCCAGCCTGAACTCAAGGATTGTTAAGACCACTCCA
CTGATCCCTAAAGCTGTTGATGACAAGTTGATTCATTTAAAACTTCTGTACATGCATTCTCAGACTCATCTTTTTTGTAATTAAAATTAAAAATTAAGTT
AAATTTAGTAATAATCATCTAATTTCTATACATTCTAAAATATATTCAGCATCTGTAGTTTATACTTTGTTTCTCCAAAGTATGTGGGTAAACAATAAAA
AAAAACTATAAATATTCAAAA
  • refseq_HPS1.F2 (forward primer)
  • refseq_HPS1.R2 (reverse primer)
  • Single exon skipping

Frame 0

GPTRKRARAPAGGALCAPRSGTWASGLSPLGAA
ILPPEPPFNPPGSEHLQDQGCCAALP*ASHRVGL
LQPFLNLWPSGCSTVLAKMKCVLVATEGAEVLF
YWTDQEFEESLRLKFGQSENEEEELPALEDQLS
TLLAPVIISSMTMLEKLSDTYTCFSTENGNFLYV
LHLFGECLFIAINGDHTESEGDLRRKLYVLKYL
FEVHFGLVTVDGHLIRKE
LRPPDLAQRVQLWEH
FQSLLWTYSRLREQEQCFAVEALERLIHPQLCEL
CIEALERHVIQAVNTSPERGGEEALHAFLLVHS
KLLAFYSSHSASSLRPADLLALILLVQDLYPSE
STAEDDIQPSPRRARSSQNIPVQQAWSPHSTGPT
GGSSAETETDSFSLPEEYFTPAPSPGDQSSGED
RRKAGGNNS*LRATGSPGHLS*APVDPRAS*GL
SAGTRVPRAQDAVCGSPSSLPAPA*TQGLLRPLH
*SLKLLMTS*FI*NFCTCILRLIFFVIKIKN*V
KFSNNHLISIHSKIYSASVVYTLFLQSMWVNNK
KKL*IFK

Frame 1

VLPGSAPGLLQAGRCARRDPVRGPPGCPLWGRR
SSLRSPPSTLPEVSICRTRDAVLLSHEPVTESV
CCSPF*TSGRLDAPLCLPR*SASWWPLRAQRSSS
TGQIRSLKRVSG*SSGSQRMRKKSSLPWRTSSA
PS*PRSSSPP*RCWRSSRTPTPASPRKMATSCM
SFTCLENACSLPSMVTTPRARGTCGGSCMCSSTC
LKCTLGW*LWTVILSER
SCGPQTWRSVSSCGST
SRACCGPTAACGSRSSASPWRPWSD*FTPSSVS
CA*RRWSGTSSRLSTPAPSGEARRPCMPSCSCTP
SCWHSTLATVPAPCARPTCLPSSSWFRTSTPAR
AQQRTTFSLPRGGPGAARTSPCSRPGALTPRAQ
LGGALQRRRQTASPSLRSTSHQLLPLAIRAQVRT
GGKQEETIASCERQAAQDICLRLQWTPVPPKA*
VQVPVFLEHRTLSAAPHLPCQLQPELKDC*DHS
TDP*SC**QVDSFKTSVHAFSDSSFL*LKLKIKL
NLVIII*FLYILKYIQHL*FILCFSKVCG*TIK
KNYKYSK

Frame 2

SYPEARPGSCRRGAVRAAIRYVGLRAVPSGGGD
PPSGAPLQPSRK*AFAGPGMLCCSPMSQSPSRS
AAALSEPLAVWMLHCACQDEVRLGGH*GRRGPL
LLDRSGV*RESPAEVRAVRE*GRRAPCPGGPAQH
PPSPGHHLLHDDAGEALGHLHLLLHGKWQLPVC
PSPVWRMPVHCHQW*PHRERGGPAAEAVCAQVP
V*SALWAGDCGRSSYPKG
AAAPRPGAACPAVGAL
PEPAVDLQPPAGAGAVLRRGGPGATDSPPAL*A
VHRGAGAARHPGCQHQPRAGRRGGPACLPARAL
QAAGILL*PQCQLPAPGRPACPHPPGSGPLPQRE
HSRGRHSAFPAEGPEQPEHPRAAGLEPSLHGPN
WGELCRDGDRQLLPP*GVLHTSSFPWRSELR*G
PEESRRKQ*LAASDRQPRTSVLGSSGPPCLLRLE
CRYPCS*STGRCLRLPIFPASSSLNSRIVKTTP
LIPKAVDDKLIHLKLLYMHSQTHLFCN*N*KLS
*I***SSNFYTF*NIFSICSLYFVSPKYVGKQ*K
KTINIQ

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