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Sequences

Sequence NM_007216

CGCGAGGGGAGACTGAAGTTCACGTTCCGCTCTTAGTGCGCGGTGAGTTCCCCGGCGCTAAGCCGGGAGACAAGATCCGATCTACTGAGAGCTGCGAGGT
ACTGCCCTGGATGTGGTGGAGCTGGGCTGGGACCTCCGGGCTGCTGGTCTGTGAGCCTGGCTTTGAAAATTGGTTACTGGGTCTCCTCTCAAGAAATCTC
AAGATATTAAAGTTACTGCTGTTAAAAAGTGCACGAGCATAGCTGTGTCTCGGAAATGGTTGGCTTTGGGCAGTTCAGGAGGAGGACTCCATCTCATTCA
GAAAGAAGGCTGGAAGCACAGGCTTTTTCTTTCACACAGGGAAGGTGCAATTTCTCAAGTCGCCTGTTGTTTACATGATGATGATTATGTTGCTGTAGCT
ACCAGTCAAGGTCTTGTGGTTGTTTGGGAATTAAATCAAGAGCGTCGTGGGAAACCGGAACAAATGTATGTGTCTTCAGAACACAAAGGCCGAAGAGTCA
CAGCTCTCTGCTGGGATACAGCTATTCTTAGAGTTTTTGTAGGTGATCATGCTGGGAAGGTTTCTGCTATCAAACTCAATACTTCTAAACAAGCAAAGGC
AGCTGCTGCTTTTGTGATGTTTCCTGTTCAGACAATCACAACTGTTGACTCCTGTGTTGTACAGTTAGATTATTTGGATGGAAGGCTACTTATATCTTCA
CTTACTCGATCCTTCTTGTGTGACACTGAGAGAGAAAAGTTTTGGAAAATTGGAAACAAGGAAAGAGATGGAGAATATGGAGCTTGTTTCTTTCCTGGAA
GATGTTCTGGGGGCCAGCAACCTCTGATATATTGTGCTCGCCCAGGCTCTAGGATGTGGGAAGTGAACTTTGATGGAGAAGTTATAAGTACACATCAGTT
CAAGAAACTCCTCTCGTTGCCACCTCTCCCTGTGATTACTCTCAGATCAGAACCTCAGTATGATCATACAGCTGGATCCTCCCAGTCTTTGTCTTTCCCC
AAACTCTTACATCTTAGTGAGCATTGTGTGCTGACTTGGACAGAAAGAGGAATTTATATTTTCATTCCTCAGAATGTTCAAGTTCTTCTTTGGAGTGAAG
TCAAAGATATTCAGGATGTGGCTGTCTGTAGGAATGAATTGTTCTGTTTGCACCTAAATGGGAAAGTCTCACATCTCTCCCTGATATCTGTGGAGCGCTG
TGTGGAACGCCTGCTAAGAAGAGGCCTATGGAACTTGGCTGCTCGTACATGCTGTCTTTTCCAAAATTCTGTCATTGCCAGCAGAGCAAGAAAAACTTTG
ACTGCAGATAAATTGGAGCATTTGAAATCTCAGCTGGACCATGGCACCTACAATGATCTAATTTCTCAACTGGAAGAATTGATCTTAAAATTTGAACCTT
TGGATTCAGCTTGTAGCAGTAGAAGAAGCTCCATTTCATCACATGAAAGTTTCAGCATCTTGGACTCTGGTATTTATCGTATCATTAGTAGTAGAAGAGG
CAGTCAGTCAGATGAAGACTCTTGCTCCCTTCACAGCCAAACCCTCTCAGAAGATGAGAGATTTAAAGAATTCACCTCACAGCAGGAAGAGGACCTGCCA
GATCAGTGTTGTGGCTCACACGGAAATGAAGACAATGTTTCTCATGCTCCAGTGATGTTTGAGACAGATAAGAATGAAACTTTTCTCCCGTTCGGCATTC
CATTACCATTTCGTTCTCCATCTCCTCTTGTGTCTCTTCAGGCTGTCAAAGAAAGTGTTTCTAGCTTTGTGCGTAAAACTACTGAGAAGATTGGCACCCT
TCACACGAGCCCTGATCTGAAAGTGAGACCAGAGCTCAGGGGTGATGAGCAATCATGTGAAGAGGATGTGAGTTCAGATACCTGCCCAAAGGAGGAAGAC
ACTGAGGAGGAAAAAGAGGTAACTAGTCCACCTCCAGAAGAAGACAGGTTCCAGGAGCTTAAAGTAGCAACAGCAGAAGCAATGACCAAGCTACAGGACC
CTCTGGTTTTATTTGAATCCGAGTCTCTGAGAATGGTTTTACAGGAGTGGCTTTCACATTTAGAAAAAACATTTGCCATGAAGGACTTTTCAGGTGTTTC
AGATACTGACAACTCATCCATGAAATTGAACCAGGATGTGCTATTAGTTAATGAATCAAAAAAGGGAATATTAGATGAAGATAATGAAAAAGAAAAAAGG
GACTCTTTAGGCAATGAAGAATCTGTTGATAAAACAGCATGTGAATGTGTAAGGAGTCCAAGGGAGTCTTTGGATGACCTGTTTCAAATATGTTCTCCAT
GCGCCATTGCAAGTGGTCTTCGGAACGACCTGGCTGAATTGACAACATTATGTTTGGAGTTGAATGTATTGAATTCTAAGATCAAAAGCACCAGTGGACA
TGTGGACCACACTTTGCAACAGTACTCTCCTGAAATTCTGGCTTGCCAGTTCCTGAAGAAGTACTTTTTTCTCCTGAACTTGAAAAGAGCGAAGGAGAGT
ATCAAGCTTAGTTACAGTAATAGCCCTTCTGTTTGGGATACTTTTATTGAAGGATTGAAAGAAATGGCAAGTTCCAATCCTGTGTATATGGAGATGGAAA
AAGGAGATCTACCAACAAGGTTAAAGTTACTAGATGACGAGGTTCCTTTTGATAGTCCGTTGTTGGTTGTTTATGCTACCCGGTTGTATGAAAAGTTTGG
GGAGTCTGCTCTTCGATCCTTAATCAAGTTCTTTCCATCCATTTTGCCATCGGATATCATACAACTTTGTCATCATCATCCTGCTGAGTTTTTGGCCTAT
TTAGACAGTCTGGTGAAATCAAGGCCTGAAGATCAGCGGTCATCTTTTCTTGAGTCCCTTCTGCAACCAGAGTCTTTAAGGTTGGATTGGCTGCTTTTGG
CAGTGTCCCTTGATGCTCCACCAAGCACCAGCACAATGGATGATGAAGGTTATCCCAGGCCTCATTCACACTTGCTTTCCTGGGGTTACAGTCAGCTGAT
CCTTCATCTAATTAAACTTCCTGCAGATTTTATAACCAAAGAGAAAATGACAGACATCTGCAGGTCTTGTGGTTTCTGGCCTGGATATCTAATTCTCTGT
TTGGAGCTGGAGAGAAGAAGAGAGGCCTTCACCAATATTGTGTATCTGAATGATATGAGCCTGATGGAAGGGGACAATGGTTGGATCCCAGAGACCGTGG
AGGAATGGAAGCTTCTCCTTCATCTCATACAGAGCAAGAGCACGAGGCCAGCCCCCCAGGAGTCACTAAATGGGAGCCTCAGTGATGGGCCTTCCCCCAT
CAATGTGGAGAATGTGGCACTTCTGTTAGCTAAGGCCATGGGCCCAGATCGGGCTTGGTCACTGCTACAGGAATGTGGTCTGGCCCTTGAGTTGTCAGAG
AAGTTTACCAGAACCTGCGATATCCTGAGGATTGCTGAGAAAAGGCAGAGGGCCTTGATACAAAGCATGCTTGAAAAATGCGATCGGTTTCTCTGGTCCC
AGCAGGCCTAGTGGGAGAAGATTCAGCAGGATGTCATGACATTTTGAGAAAAACTAAATCATGCTCCTGAACCTTCTGAACGCATTTGTTATTGAAGGAA
AGACACCACCCCCAAATCCTGCCATCTTATTGGGGCTACTTTTGTCAGTGTCTGTACCCTTGGCATCGGCATCTGTGACTCTTTATCCATGACCTCAGTG
TTTCTTAACCAAAGTTGTACTCAGCATTTCTTAACCAAAGTTGAATTTTGAAAAGAGTCAGTCCTTGTTTGCTGGAATTAGAATGTTAATGTCCTAGTAT
TATTCCGAACTACAGTATTAACTGCTTGTTGCTAGTGGATTAGACAGATTCTTTTCTTACTGTGGCTTCCATGTTGGGAGCAGAAGCTTTTCATCCTGGT
CACATGAAGACAGATGGTATTATTGACTGGAGTTGAATTATTTTTATATCTTGTCTGGCACAATATGGAAATTACTGAAATAAGACGGTGTATAATGGAA
TTAACACCCAAAATAAGTAGAACACTGAAGATTTGAATTTGATATTTAAGTAAAATGGGACTGGGTGCAGTGGCTCAGGCCTGTAATCCCAACCCTTTGG
AAGGTAAAGACGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGAATGCATCTCTACAAAAAATAAAAAAAATTAGCTAG
GCATAGTACCTGAGGCCAGGAGGTCCAGGCCGCAATGAGATGTGTTTGTGCCATTGCACACCAGTCTGGGTGACAGAGAAAGACCCTGTCTCAAAAACAA
ATTAAATAAAATATCTTCATATATAAATTAAGCTAATTAAAAATATTTTTCCCTGTATTTATTTAATATTTTCTAATCTGAACCCATATACAGCTGACTA
ATTCATTCTTAGAAATGTGTTATCTGTAATCTTTCCTAAACAGAGTAGCCCACAAGAATCATGCACTTTTTAAAATTATTTCTAAGAAGCCATAACAAAG
CTGTGTACTAATAAAGACTGCAGCAAGCACTTGTGTTATTTAAATTATGTAAGTAGATTGTCATTTGTCAGGCTCCTGTACATTTACATAGCATGTTATA
TTAATAATAAATGTAAAATATGACTAAAGTTTTCATTGGAACACAATGTAGACAGGAGGTTTATTATGAGCATTTTGCAGAAAGGTGTGGAGTAAGTAAA
GTGTTGGATGCACTGAACAATTC
  • refseq_HPS5.F2 (forward primer)
  • refseq_HPS5.R2 (reverse primer)
  • Single exon skipping

Frame 0

REGRLKFTFRS*CAVSSPALSRETRSDLLRAAR
YCPGCGGAGLGPPGCWSVSLALKIGYWVSSQEIS
RY*SYCC*KVHEHSCVSEMVGFGQFRRRTPSHS
ERRLEAQAFSFTQGRCNFSSRLLFT***LCCCS
YQSRSCGCLGIKSRASWETGTNVCVFRTQRPKSH
SSLLGYSYS*SFCR*SCWEGFCYQTQYF*TSKG
SCCFCDVSCSDNHNC*LLCCTVRLFGWKATYIF
TYSILLV*H*ERKVLENWKQGKRWRIWSLFLSWK
MFWGPATSDILCSPRL*DVGSEL*WRSYKYTSV
QETPLVATSPCDYSQIRTSV*SYSWILPVFVFP
QTLTS**ALCADLDRKRNLYFHSSECSSSSLE*S
QRYSGCGCL*E*IVLFAPKWESLTSLPDICGAL
CGTPAKKRPMELGCSYMLSFPKFCHCQQSKKNF
DCR*IGAFEISAGPWHLQ*SNFSTGRIDLKI*TF
GFSL*Q*KKLHFIT*KFQHLGLWYLSYH***KR
QSVR*RLLLPSQPNPLRR*EI*RIHLTAGRGPA
RSVLWLTRK*RQCFSCSSDV*DR*E*NFSPVRHS
ITISFSISSCVSSGCQRKCF*LCA*NY*EDWHP
SHEP*SESETRAQG**AIM*RGCEFRYLPKGGR
H*GGKRGN*STSRRRQVPGA*SSNSRSNDQATGP
SGFI*IRVSENGFTGVAFTFRKNICHEGLFRCF
RY*QLIHEIEPGCAIS**IKKGNIR*R**KRKK
GLFRQ*RIC**NSM*MCKESKGVFG*PVSNMFSM
RHCKWSSERPG*IDNIMFGVECIEF*DQKHQWT
CGPHFATVLS*NSGLPVPEEVLFSPELEKSEGE
YQA*LQ**PFCLGYFY*RIERNGKFQSCVYGDGK
RRSTNKVKVTR*RGSF**SVVGCLCYPVV*KVW
GVCSSILNQVLSIHFAIGYHTTLSSSSC*VFGL
FRQSGEIKA*RSAVIFS*VPSATRVFKVGLAAFG
SVP*CSTKHQHNG**RLSQASFTLAFLGLQSAD
PSSN*TSCRFYNQRENDRHLQVLWFLAWISNSL
FGAGEKKRGLHQYCVSE*YEPDGRGQWLDPRDRG
GMEASPSSHTEQEHEASPPGVTKWEPQ*WAFPH
QCGECGTSVS*GHGPRSGLVTATGMWSGP*VVR
EVYQNLRYPEDC*EKAEGLDTKHA*KMRSVSLVP
AGLVGEDSAGCHDILRKTKSCS*TF*THLLLKE
RHHPQILPSYWGYFCQCLYPWHRHL*LFIHDLS
VS*PKLYSAFLNQS*ILKRVSPCLLELEC*CPSI
IPNYSINCLLLVD*TDSFLTVASMLGAEAFHPG
HMKTDGIIDWS*IIFISCLAQYGNY*NKTVYNG
INTQNK*NTEDLNLIFK*NGTGCSGSGL*SQPFG
R*RREDHLRPGVQDQPGQHSENASLQKIKKIS*
A*YLRPGGPGRNEMCLCHCTPVWVTEKDPVSKT
N*IKYLHI*IKLIKNIFPCIYLIFSNLNPYTAD*
FILRNVLSVIFPKQSSPQESCTF*NYF*EAITK
LCTNKDCSKHLCYLNYVSRLSFVRLLYIYIACY
INNKCKI*LKFSLEHNVDRRFIMSILQKGVE*VK
CWMH*TI

Frame 1

ARGD*SSRSALSAR*VPRR*AGRQDPIY*ELRG
TALDVVELGWDLRAAGL*AWL*KLVTGSPLKKS
QDIKVTAVKKCTSIAVSRKWLALGSSGGGLHLIQ
KEGWKHRLFLSHREGAISQVACCLHDDDYVAVA
TSQGLVVVWELNQERRGKPEQMYVSSEHKGRRV
TALCWDTAILRVFVGDHAGKVSAIKLNTSKQAKA
AAAFVMFPVQTITTVDSCVVQLDYLDGRLLISS
LTRSFLCDTEREKFWKIGNKERDGEYGACFFPG
RCSGGQQPLIYCARPGSRMWEVNFDGEVISTHQF
KKLLSLPPLPVITLRSEPQYDHTAGSSQSLSFP
KLLHLSEHCVLTWTERGIYIFIPQNVQVLLWSE
VKDIQDVAVCRNELFCLHLNGKVSHLSLISVERC
VERLLRRGLWNLAARTCCLFQNSVIASRARKTL
TADKLEHLKSQLDHGTYNDLISQLEELILKFEP
LDSACSSRRSSISSHESFSILDSGIYRIISSRRG
SQSDEDSCSLHSQTLSEDERFKEFTSQQEEDLP
DQCCGSHGNEDNVSHAPVMFETDKNETFLPFGI
PLPFRSPSPLVSLQAVKESVSSFVRKTTEKIGTL
HTSPDLKVRPELRGDEQSCEEDVSSDTCPKEED
TEEEKEVTSPPPEEDRFQELKVATAEAMTKLQD
PLVLFESESLRMVLQEWLSHLEKTFAMKDFSGVS
DTDNSSMKLNQDVLLVNESKKGILDEDNEKEKR
DSLGNEESVDKTACECVRSPRESLDDLFQICSP
CAIASGLRNDLAELTTLCLELNVLNSKIKSTSGH
VDHTLQQYSPEILACQFLKKYFFLLNLKRAKES
IKLSYSNSPSVWDTFIEGLKEMASSNPVYMEME
KGDLPTRLKLLDDEVPFDSPLLVVYATRLYEKFG
ESALRSLIKFFPSILPSDIIQLCHHHPAEFLAY
LDSLVKSRPEDQRSSFLESLLQPESLRLDWLLL
AVSLDAPPSTSTMDDEGYPRPHSHLLSWGYSQLI
LHLIKLPADFITKEKMTDICRSCGFWPGYLILC
LELERRREAFTNIVYLNDMSLMEGDNGWIPETV
EEWKLLLHLIQSKSTRPAPQESLNGSLSDGPSPI
NVENVALLLAKAMGPDRAWSLLQECGLALELSE
KFTRTCDILRIAEKRQRALIQSMLEKCDRFLWS
QQA*WEKIQQDVMTF*EKLNHAPEPSERICY*RK
DTTPKSCHLIGATFVSVCTLGIGICDSLSMTSV
FLNQSCTQHFLTKVEF*KESVLVCWN*NVNVLV
LFRTTVLTACC*WIRQILFLLWLPCWEQKLFILV
T*RQMVLLTGVELFLYLVWHNMEITEIRRCIME
LTPKISRTLKI*I*YLSKMGLGAVAQACNPNPL
EGKDGRIT*GQEFKTSLGNIVRMHLYKK*KKLAR
HST*GQEVQAAMRCVCAIAHQSG*QRKTLSQKQ
IK*NIFIYKLS*LKIFFPVFI*YFLI*THIQLT
NSFLEMCYL*SFLNRVAHKNHALFKIISKKP*QS
CVLIKTAASTCVI*IM*VDCHLSGSCTFT*HVI
LIINVKYD*SFHWNTM*TGGLL*AFCRKVWSK*
SVGCTEQF

Frame 2

RGETEVHVPLLVRGEFPGAKPGDKIRSTESCEV
LPWMWWSWAGTSGLLVCEPGFENWLLGLLSRNL
KILKLLLLKSARA*LCLGNGWLWAVQEEDSISF
RKKAGSTGFFFHTGKVQFLKSPVVYMMMIMLL*L
PVKVLWLFGN*IKSVVGNRNKCMCLQNTKAEES
QLSAGIQLFLEFL*VIMLGRFLLSNSILLNKQR
QLLLL*CFLFRQSQLLTPVLYS*IIWMEGYLYLH
LLDPSCVTLREKSFGKLETRKEMENMELVSFLE
DVLGASNL*YIVLAQALGCGK*TLMEKL*VHIS
SRNSSRCHLSL*LLSDQNLSMIIQLDPPSLCLSP
NSYILVSIVC*LGQKEEFIFSFLRMFKFFFGVK
SKIFRMWLSVGMNCSVCT*MGKSHISP*YLWSA
VWNAC*EEAYGTWLLVHAVFSKILSLPAEQEKL*
LQINWSI*NLSWTMAPTMI*FLNWKN*S*NLNL
WIQLVAVEEAPFHHMKVSASWTLVFIVSLVVEE
AVSQMKTLAPFTAKPSQKMRDLKNSPHSRKRTCQ
ISVVAHTEMKTMFLMLQ*CLRQIRMKLFSRSAF
HYHFVLHLLLCLFRLSKKVFLALCVKLLRRLAP
FTRALI*K*DQSSGVMSNHVKRM*VQIPAQRRKT
LRRKKR*LVHLQKKTGSRSLK*QQQKQ*PSYRT
LWFYLNPSL*EWFYRSGFHI*KKHLP*RTFQVF
QILTTHP*N*TRMCY*LMNQKREY*MKIMKKKKG
TL*AMKNLLIKQHVNV*GVQGSLWMTCFKYVLH
APLQVVFGTTWLN*QHYVWS*MY*ILRSKAPVD
MWTTLCNSTLLKFWLASS*RSTFFS*T*KERRRV
SSLVTVIALLFGILLLKD*KKWQVPILCIWRWK
KEIYQQG*SY*MTRFLLIVRCWLFMLPGCMKSL
GSLLFDP*SSSFHPFCHRISYNFVIIILLSFWPI
*TVW*NQGLKISGHLFLSPFCNQSL*GWIGCFW
QCPLMLHQAPAQWMMKVIPGLIHTCFPGVTVS*
SFI*LNFLQIL*PKRK*QTSAGLVVSGLDI*FSV
WSWREEERPSPILCI*MI*A*WKGTMVGSQRPW
RNGSFSFISYRARARGQPPRSH*MGASVMGLPP
SMWRMWHFC*LRPWAQIGLGHCYRNVVWPLSCQR
SLPEPAIS*GLLRKGRGP*YKACLKNAIGFSGP
SRPSGRRFSRMS*HFEKN*IMLLNLLNAFVIEG
KTPPPNPAILLGLLLSVSVPLASASVTLYP*PQC
FLTKVVLSIS*PKLNFEKSQSLFAGIRMLMS*Y
YSELQY*LLVASGLDRFFSYCGFHVGSRSFSSW
SHEDRWYY*LELNYFYILSGTIWKLLK*DGV*WN
*HPK*VEH*RFEFDI*VKWDWVQWLRPVIPTLW
KVKTGGSLEARSSRPAWAT**ECISTKNKKN*L
GIVPEARRSRPQ*DVFVPLHTSLGDRERPCLKNK
LNKISSYIN*AN*KYFSLYLFNIF*SEPIYS*L
IHS*KCVICNLS*TE*PTRIMHFLKLFLRSHNK
AVY**RLQQALVLFKLCK*IVICQAPVHLHSMLY
***M*NMTKVFIGTQCRQEVYYEHFAERCGVSK
VLDALNN

Sequence NM_181507

CGCGAGGGGAGACTGAAGTTCACGTTCCGCTCTTAGTGCGCGGTGAGTTCCCCGGCGCTAAGCCGGGAGACAAGATCCGATCTACTGAGAGCTGCGAGGT
ACTGCCCTGGATGTGGTGGAGCTGGGCTGGGACCTCCGGGCTGCTGGTCTGTGAGCCTGGCTTTGAAAATTGGTTACTGGGTCTCCTCTCAAGAAATCTC
AAGATATTAAAGTTACTGCTGTTAAAAAGGTGAGGAATACTGTATCTATCATTCAACAAGTTTCAGCTTTCTGGCTAAATGGCTTTTGTGCCAGTGATAC
CAGAGTCCTACAGCCATGTTCTTGCAGAGTTTGAATCTCTGGATCCATTACTCTCAGCCCTGCGGCTGGACTCCAGTCGTCTAAAG
TGCACGAGCATAGC
TGTGTCTCGGAAATGGTTGGCTTTGGGCAGTTCAGGAGGAGGACTCCATCTCATTCAGAAAGAAGGCTGGAAGCACAGGCTTTTTCTTTCACACAGGGAA
GGTGCAATTTCTCAAGTCGCCTGTTGTTTACATGATGATGATTATGTTGCTGTAGCTACCAGTCAAGGTCTTGTGGTTGTTTGGGAATTAAATCAAGAGC
GTCGTGGGAAACCGGAACAAATGTATGTGTCTTCAGAACACAAAGGCCGAAGAGTCACAGCTCTCTGCTGGGATACAGCTATTCTTAGAGTTTTTGTAGG
TGATCATGCTGGGAAGGTTTCTGCTATCAAACTCAATACTTCTAAACAAGCAAAGGCAGCTGCTGCTTTTGTGATGTTTCCTGTTCAGACAATCACAACT
GTTGACTCCTGTGTTGTACAGTTAGATTATTTGGATGGAAGGCTACTTATATCTTCACTTACTCGATCCTTCTTGTGTGACACTGAGAGAGAAAAGTTTT
GGAAAATTGGAAACAAGGAAAGAGATGGAGAATATGGAGCTTGTTTCTTTCCTGGAAGATGTTCTGGGGGCCAGCAACCTCTGATATATTGTGCTCGCCC
AGGCTCTAGGATGTGGGAAGTGAACTTTGATGGAGAAGTTATAAGTACACATCAGTTCAAGAAACTCCTCTCGTTGCCACCTCTCCCTGTGATTACTCTC
AGATCAGAACCTCAGTATGATCATACAGCTGGATCCTCCCAGTCTTTGTCTTTCCCCAAACTCTTACATCTTAGTGAGCATTGTGTGCTGACTTGGACAG
AAAGAGGAATTTATATTTTCATTCCTCAGAATGTTCAAGTTCTTCTTTGGAGTGAAGTCAAAGATATTCAGGATGTGGCTGTCTGTAGGAATGAATTGTT
CTGTTTGCACCTAAATGGGAAAGTCTCACATCTCTCCCTGATATCTGTGGAGCGCTGTGTGGAACGCCTGCTAAGAAGAGGCCTATGGAACTTGGCTGCT
CGTACATGCTGTCTTTTCCAAAATTCTGTCATTGCCAGCAGAGCAAGAAAAACTTTGACTGCAGATAAATTGGAGCATTTGAAATCTCAGCTGGACCATG
GCACCTACAATGATCTAATTTCTCAACTGGAAGAATTGATCTTAAAATTTGAACCTTTGGATTCAGCTTGTAGCAGTAGAAGAAGCTCCATTTCATCACA
TGAAAGTTTCAGCATCTTGGACTCTGGTATTTATCGTATCATTAGTAGTAGAAGAGGCAGTCAGTCAGATGAAGACTCTTGCTCCCTTCACAGCCAAACC
CTCTCAGAAGATGAGAGATTTAAAGAATTCACCTCACAGCAGGAAGAGGACCTGCCAGATCAGTGTTGTGGCTCACACGGAAATGAAGACAATGTTTCTC
ATGCTCCAGTGATGTTTGAGACAGATAAGAATGAAACTTTTCTCCCGTTCGGCATTCCATTACCATTTCGTTCTCCATCTCCTCTTGTGTCTCTTCAGGC
TGTCAAAGAAAGTGTTTCTAGCTTTGTGCGTAAAACTACTGAGAAGATTGGCACCCTTCACACGAGCCCTGATCTGAAAGTGAGACCAGAGCTCAGGGGT
GATGAGCAATCATGTGAAGAGGATGTGAGTTCAGATACCTGCCCAAAGGAGGAAGACACTGAGGAGGAAAAAGAGGTAACTAGTCCACCTCCAGAAGAAG
ACAGGTTCCAGGAGCTTAAAGTAGCAACAGCAGAAGCAATGACCAAGCTACAGGACCCTCTGGTTTTATTTGAATCCGAGTCTCTGAGAATGGTTTTACA
GGAGTGGCTTTCACATTTAGAAAAAACATTTGCCATGAAGGACTTTTCAGGTGTTTCAGATACTGACAACTCATCCATGAAATTGAACCAGGATGTGCTA
TTAGTTAATGAATCAAAAAAGGGAATATTAGATGAAGATAATGAAAAAGAAAAAAGGGACTCTTTAGGCAATGAAGAATCTGTTGATAAAACAGCATGTG
AATGTGTAAGGAGTCCAAGGGAGTCTTTGGATGACCTGTTTCAAATATGTTCTCCATGCGCCATTGCAAGTGGTCTTCGGAACGACCTGGCTGAATTGAC
AACATTATGTTTGGAGTTGAATGTATTGAATTCTAAGATCAAAAGCACCAGTGGACATGTGGACCACACTTTGCAACAGTACTCTCCTGAAATTCTGGCT
TGCCAGTTCCTGAAGAAGTACTTTTTTCTCCTGAACTTGAAAAGAGCGAAGGAGAGTATCAAGCTTAGTTACAGTAATAGCCCTTCTGTTTGGGATACTT
TTATTGAAGGATTGAAAGAAATGGCAAGTTCCAATCCTGTGTATATGGAGATGGAAAAAGGAGATCTACCAACAAGGTTAAAGTTACTAGATGACGAGGT
TCCTTTTGATAGTCCGTTGTTGGTTGTTTATGCTACCCGGTTGTATGAAAAGTTTGGGGAGTCTGCTCTTCGATCCTTAATCAAGTTCTTTCCATCCATT
TTGCCATCGGATATCATACAACTTTGTCATCATCATCCTGCTGAGTTTTTGGCCTATTTAGACAGTCTGGTGAAATCAAGGCCTGAAGATCAGCGGTCAT
CTTTTCTTGAGTCCCTTCTGCAACCAGAGTCTTTAAGGTTGGATTGGCTGCTTTTGGCAGTGTCCCTTGATGCTCCACCAAGCACCAGCACAATGGATGA
TGAAGGTTATCCCAGGCCTCATTCACACTTGCTTTCCTGGGGTTACAGTCAGCTGATCCTTCATCTAATTAAACTTCCTGCAGATTTTATAACCAAAGAG
AAAATGACAGACATCTGCAGGTCTTGTGGTTTCTGGCCTGGATATCTAATTCTCTGTTTGGAGCTGGAGAGAAGAAGAGAGGCCTTCACCAATATTGTGT
ATCTGAATGATATGAGCCTGATGGAAGGGGACAATGGTTGGATCCCAGAGACCGTGGAGGAATGGAAGCTTCTCCTTCATCTCATACAGAGCAAGAGCAC
GAGGCCAGCCCCCCAGGAGTCACTAAATGGGAGCCTCAGTGATGGGCCTTCCCCCATCAATGTGGAGAATGTGGCACTTCTGTTAGCTAAGGCCATGGGC
CCAGATCGGGCTTGGTCACTGCTACAGGAATGTGGTCTGGCCCTTGAGTTGTCAGAGAAGTTTACCAGAACCTGCGATATCCTGAGGATTGCTGAGAAAA
GGCAGAGGGCCTTGATACAAAGCATGCTTGAAAAATGCGATCGGTTTCTCTGGTCCCAGCAGGCCTAGTGGGAGAAGATTCAGCAGGATGTCATGACATT
TTGAGAAAAACTAAATCATGCTCCTGAACCTTCTGAACGCATTTGTTATTGAAGGAAAGACACCACCCCCAAATCCTGCCATCTTATTGGGGCTACTTTT
GTCAGTGTCTGTACCCTTGGCATCGGCATCTGTGACTCTTTATCCATGACCTCAGTGTTTCTTAACCAAAGTTGTACTCAGCATTTCTTAACCAAAGTTG
AATTTTGAAAAGAGTCAGTCCTTGTTTGCTGGAATTAGAATGTTAATGTCCTAGTATTATTCCGAACTACAGTATTAACTGCTTGTTGCTAGTGGATTAG
ACAGATTCTTTTCTTACTGTGGCTTCCATGTTGGGAGCAGAAGCTTTTCATCCTGGTCACATGAAGACAGATGGTATTATTGACTGGAGTTGAATTATTT
TTATATCTTGTCTGGCACAATATGGAAATTACTGAAATAAGACGGTGTATAATGGAATTAACACCCAAAATAAGTAGAACACTGAAGATTTGAATTTGAT
ATTTAAGTAAAATGGGACTGGGTGCAGTGGCTCAGGCCTGTAATCCCAACCCTTTGGAAGGTAAAGACGGGAGGATCACTTGAGGCCAGGAGTTCAAGAC
CAGCCTGGGCAACATAGTGAGAATGCATCTCTACAAAAAATAAAAAAAATTAGCTAGGCATAGTACCTGAGGCCAGGAGGTCCAGGCCGCAATGAGATGT
GTTTGTGCCATTGCACACCAGTCTGGGTGACAGAGAAAGACCCTGTCTCAAAAACAAATTAAATAAAATATCTTCATATATAAATTAAGCTAATTAAAAA
TATTTTTCCCTGTATTTATTTAATATTTTCTAATCTGAACCCATATACAGCTGACTAATTCATTCTTAGAAATGTGTTATCTGTAATCTTTCCTAAACAG
AGTAGCCCACAAGAATCATGCACTTTTTAAAATTATTTCTAAGAAGCCATAACAAAGCTGTGTACTAATAAAGACTGCAGCAAGCACTTGTGTTATTTAA
ATTATGTAAGTAGATTGTCATTTGTCAGGCTCCTGTACATTTACATAGCATGTTATATTAATAATAAATGTAAAATATGACTAAAGTTTTCATTGGAACA
CAATGTAGACAGGAGGTTTATTATGAGCATTTTGCAGAAAGGTGTGGAGTAAGTAAAGTGTTGGATGCACTGAACAATTC
  • refseq_HPS5.F2 (forward primer)
  • refseq_HPS5.R2 (reverse primer)
  • Single exon skipping

Frame 0

REGRLKFTFRS*CAVSSPALSRETRSDLLRAAR
YCPGCGGAGLGPPGCWSVSLALKIGYWVSSQEIS
RY*SYCC*KGEEYCIYHSTSFSFLAKWLLCQ*Y
QSPTAMFLQSLNLWIHYSQPCGWTPVV*S
ARA*
LCLGNGWLWAVQEEDSISFRKKAGSTGFFFHTGK
VQFLKSPVVYMMMIMLL*LPVKVLWLFGN*IKS
VVGNRNKCMCLQNTKAEESQLSAGIQLFLEFL*
VIMLGRFLLSNSILLNKQRQLLLL*CFLFRQSQL
LTPVLYS*IIWMEGYLYLHLLDPSCVTLREKSF
GKLETRKEMENMELVSFLEDVLGASNL*YIVLA
QALGCGK*TLMEKL*VHISSRNSSRCHLSL*LLS
DQNLSMIIQLDPPSLCLSPNSYILVSIVC*LGQ
KEEFIFSFLRMFKFFFGVKSKIFRMWLSVGMNC
SVCT*MGKSHISP*YLWSAVWNAC*EEAYGTWLL
VHAVFSKILSLPAEQEKL*LQINWSI*NLSWTM
APTMI*FLNWKN*S*NLNLWIQLVAVEEAPFHH
MKVSASWTLVFIVSLVVEEAVSQMKTLAPFTAKP
SQKMRDLKNSPHSRKRTCQISVVAHTEMKTMFL
MLQ*CLRQIRMKLFSRSAFHYHFVLHLLLCLFR
LSKKVFLALCVKLLRRLAPFTRALI*K*DQSSGV
MSNHVKRM*VQIPAQRRKTLRRKKR*LVHLQKK
TGSRSLK*QQQKQ*PSYRTLWFYLNPSL*EWFY
RSGFHI*KKHLP*RTFQVFQILTTHP*N*TRMCY
*LMNQKREY*MKIMKKKKGTL*AMKNLLIKQHV
NV*GVQGSLWMTCFKYVLHAPLQVVFGTTWLN*
QHYVWS*MY*ILRSKAPVDMWTTLCNSTLLKFWL
ASS*RSTFFS*T*KERRRVSSLVTVIALLFGIL
LLKD*KKWQVPILCIWRWKKEIYQQG*SY*MTR
FLLIVRCWLFMLPGCMKSLGSLLFDP*SSSFHPF
CHRISYNFVIIILLSFWPI*TVW*NQGLKISGH
LFLSPFCNQSL*GWIGCFWQCPLMLHQAPAQWM
MKVIPGLIHTCFPGVTVS*SFI*LNFLQIL*PKR
K*QTSAGLVVSGLDI*FSVWSWREEERPSPILC
I*MI*A*WKGTMVGSQRPWRNGSFSFISYRARA
RGQPPRSH*MGASVMGLPPSMWRMWHFC*LRPWA
QIGLGHCYRNVVWPLSCQRSLPEPAIS*GLLRK
GRGP*YKACLKNAIGFSGPSRPSGRRFSRMS*H
FEKN*IMLLNLLNAFVIEGKTPPPNPAILLGLLL
SVSVPLASASVTLYP*PQCFLTKVVLSIS*PKL
NFEKSQSLFAGIRMLMS*YYSELQY*LLVASGL
DRFFSYCGFHVGSRSFSSWSHEDRWYY*LELNYF
YILSGTIWKLLK*DGV*WN*HPK*VEH*RFEFD
I*VKWDWVQWLRPVIPTLWKVKTGGSLEARSSR
PAWAT**ECISTKNKKN*LGIVPEARRSRPQ*DV
FVPLHTSLGDRERPCLKNKLNKISSYIN*AN*K
YFSLYLFNIF*SEPIYS*LIHS*KCVICNLS*T
E*PTRIMHFLKLFLRSHNKAVY**RLQQALVLFK
LCK*IVICQAPVHLHSMLY***M*NMTKVFIGT
QCRQEVYYEHFAERCGVSKVLDALNN

Frame 1

ARGD*SSRSALSAR*VPRR*AGRQDPIY*ELRG
TALDVVELGWDLRAAGL*AWL*KLVTGSPLKKS
QDIKVTAVKKVRNTVSIIQQVSAFWLNGFCASDT
RVLQPCSCRV*ISGSITLSPAAGLQSSK
VHEHS
CVSEMVGFGQFRRRTPSHSERRLEAQAFSFTQG
RCNFSSRLLFT***LCCCSYQSRSCGCLGIKSRA
SWETGTNVCVFRTQRPKSHSSLLGYSYS*SFCR
*SCWEGFCYQTQYF*TSKGSCCFCDVSCSDNHN
C*LLCCTVRLFGWKATYIFTYSILLV*H*ERKVL
ENWKQGKRWRIWSLFLSWKMFWGPATSDILCSP
RL*DVGSEL*WRSYKYTSVQETPLVATSPCDYS
QIRTSV*SYSWILPVFVFPQTLTS**ALCADLDR
KRNLYFHSSECSSSSLE*SQRYSGCGCL*E*IV
LFAPKWESLTSLPDICGALCGTPAKKRPMELGC
SYMLSFPKFCHCQQSKKNFDCR*IGAFEISAGPW
HLQ*SNFSTGRIDLKI*TFGFSL*Q*KKLHFIT
*KFQHLGLWYLSYH***KRQSVR*RLLLPSQPN
PLRR*EI*RIHLTAGRGPARSVLWLTRK*RQCFS
CSSDV*DR*E*NFSPVRHSITISFSISSCVSSG
CQRKCF*LCA*NY*EDWHPSHEP*SESETRAQG
**AIM*RGCEFRYLPKGGRH*GGKRGN*STSRRR
QVPGA*SSNSRSNDQATGPSGFI*IRVSENGFT
GVAFTFRKNICHEGLFRCFRY*QLIHEIEPGCA
IS**IKKGNIR*R**KRKKGLFRQ*RIC**NSM*
MCKESKGVFG*PVSNMFSMRHCKWSSERPG*ID
NIMFGVECIEF*DQKHQWTCGPHFATVLS*NSG
LPVPEEVLFSPELEKSEGEYQA*LQ**PFCLGYF
Y*RIERNGKFQSCVYGDGKRRSTNKVKVTR*RG
SF**SVVGCLCYPVV*KVWGVCSSILNQVLSIH
FAIGYHTTLSSSSC*VFGLFRQSGEIKA*RSAVI
FS*VPSATRVFKVGLAAFGSVP*CSTKHQHNG*
*RLSQASFTLAFLGLQSADPSSN*TSCRFYNQR
ENDRHLQVLWFLAWISNSLFGAGEKKRGLHQYCV
SE*YEPDGRGQWLDPRDRGGMEASPSSHTEQEH
EASPPGVTKWEPQ*WAFPHQCGECGTSVS*GHG
PRSGLVTATGMWSGP*VVREVYQNLRYPEDC*EK
AEGLDTKHA*KMRSVSLVPAGLVGEDSAGCHDI
LRKTKSCS*TF*THLLLKERHHPQILPSYWGYF
CQCLYPWHRHL*LFIHDLSVS*PKLYSAFLNQS*
ILKRVSPCLLELEC*CPSIIPNYSINCLLLVD*
TDSFLTVASMLGAEAFHPGHMKTDGIIDWS*II
FISCLAQYGNY*NKTVYNGINTQNK*NTEDLNLI
FK*NGTGCSGSGL*SQPFGR*RREDHLRPGVQD
QPGQHSENASLQKIKKIS*A*YLRPGGPGRNEM
CLCHCTPVWVTEKDPVSKTN*IKYLHI*IKLIKN
IFPCIYLIFSNLNPYTAD*FILRNVLSVIFPKQ
SSPQESCTF*NYF*EAITKLCTNKDCSKHLCYL
NYVSRLSFVRLLYIYIACYINNKCKI*LKFSLEH
NVDRRFIMSILQKGVE*VKCWMH*TI

Frame 2

RGETEVHVPLLVRGEFPGAKPGDKIRSTESCEV
LPWMWWSWAGTSGLLVCEPGFENWLLGLLSRNL
KILKLLLLKR*GILYLSFNKFQLSG*MAFVPVI
PESYSHVLAEFESLDPLLSALRLDSSRLK
CTSIA
VSRKWLALGSSGGGLHLIQKEGWKHRLFLSHRE
GAISQVACCLHDDDYVAVATSQGLVVVWELNQE
RRGKPEQMYVSSEHKGRRVTALCWDTAILRVFVG
DHAGKVSAIKLNTSKQAKAAAAFVMFPVQTITT
VDSCVVQLDYLDGRLLISSLTRSFLCDTEREKF
WKIGNKERDGEYGACFFPGRCSGGQQPLIYCARP
GSRMWEVNFDGEVISTHQFKKLLSLPPLPVITL
RSEPQYDHTAGSSQSLSFPKLLHLSEHCVLTWT
ERGIYIFIPQNVQVLLWSEVKDIQDVAVCRNELF
CLHLNGKVSHLSLISVERCVERLLRRGLWNLAA
RTCCLFQNSVIASRARKTLTADKLEHLKSQLDH
GTYNDLISQLEELILKFEPLDSACSSRRSSISSH
ESFSILDSGIYRIISSRRGSQSDEDSCSLHSQT
LSEDERFKEFTSQQEEDLPDQCCGSHGNEDNVS
HAPVMFETDKNETFLPFGIPLPFRSPSPLVSLQA
VKESVSSFVRKTTEKIGTLHTSPDLKVRPELRG
DEQSCEEDVSSDTCPKEEDTEEEKEVTSPPPEE
DRFQELKVATAEAMTKLQDPLVLFESESLRMVLQ
EWLSHLEKTFAMKDFSGVSDTDNSSMKLNQDVL
LVNESKKGILDEDNEKEKRDSLGNEESVDKTAC
ECVRSPRESLDDLFQICSPCAIASGLRNDLAELT
TLCLELNVLNSKIKSTSGHVDHTLQQYSPEILA
CQFLKKYFFLLNLKRAKESIKLSYSNSPSVWDT
FIEGLKEMASSNPVYMEMEKGDLPTRLKLLDDEV
PFDSPLLVVYATRLYEKFGESALRSLIKFFPSI
LPSDIIQLCHHHPAEFLAYLDSLVKSRPEDQRS
SFLESLLQPESLRLDWLLLAVSLDAPPSTSTMDD
EGYPRPHSHLLSWGYSQLILHLIKLPADFITKE
KMTDICRSCGFWPGYLILCLELERRREAFTNIV
YLNDMSLMEGDNGWIPETVEEWKLLLHLIQSKST
RPAPQESLNGSLSDGPSPINVENVALLLAKAMG
PDRAWSLLQECGLALELSEKFTRTCDILRIAEK
RQRALIQSMLEKCDRFLWSQQA*WEKIQQDVMTF
*EKLNHAPEPSERICY*RKDTTPKSCHLIGATF
VSVCTLGIGICDSLSMTSVFLNQSCTQHFLTKV
EF*KESVLVCWN*NVNVLVLFRTTVLTACC*WIR
QILFLLWLPCWEQKLFILVT*RQMVLLTGVELF
LYLVWHNMEITEIRRCIMELTPKISRTLKI*I*
YLSKMGLGAVAQACNPNPLEGKDGRIT*GQEFKT
SLGNIVRMHLYKK*KKLARHST*GQEVQAAMRC
VCAIAHQSG*QRKTLSQKQIK*NIFIYKLS*LK
IFFPVFI*YFLI*THIQLTNSFLEMCYL*SFLNR
VAHKNHALFKIISKKP*QSCVLIKTAASTCVI*
IM*VDCHLSGSCTFT*HVILIINVKYD*SFHWN
TM*TGGLL*AFCRKVWSK*SVGCTEQF

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