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Sequences

Sequence NM_003843

CACTGAATAAACTCTAGGTTCCCATTTCTTTCAGCCAGATCCTCCCAGGGAATCACTACAGGCTGGTTAGCCAAAAAGTCCTGATTTTCTGCTCAATAGA
GGTCCTTACTGGAAGGCAGCATGTCCAATGTTACCTTGAGAAAAATGTCTCCCACAGGAAATGAGATGAAGAGCACCACTCAGGGAACCACACGGAAGCA
GCAGGATTTTCACGAGGTGAACAAAAGAAGAACTTTCTTACAGGATAACAGTTGGATAAAGAAACGCCCTGAAGAAGAAAAAGATGAAAATTACGGTAGG
GTGGTGCTCAACCGACATAATTCCCATGATGCATTGGACAGGAAAGTAAATGAGAGAGATGTGCCAAAAGCTACAATTAGTCGGTACAGTTCTGATGACA
CTTTGGACAGGATCTCAGACAGAAATGATGCTGCTAAAACATATAAGGCCAATACCTTGGATAACCAACTAACCAATAGGAGCATGTCCATGTTTAGATC
ACTGGAAGTAACAAAGTTGCAACCTGGCGGTTCATTGAATGCCAACACCTCCAACACCATAGCATCCACTTCTGCTACTACTCCTGTAAAGAAGAAGAGG
CAGTCCTGGTTTCCACCGCCCCCTCCAGGTTACAATGCCTCCTCGAGCACAGGAACCAGGAGACGGGAACCAGGTGTTCACCCTCCAATACCTCCAAAGC
CCAGTTCTCCTGTTTCTTCTCCTAACCAGCTGAGACAGGATAATAGGCAGATACATCCACCTAAACCAGGTGTATATACAGAAACCAACAGATCTGCTGA
AAGAAATATAAGTGAAGAATTGGATAATCTCATCAAAATGAACAAAAGCTTGAATAGGAATCAAGGTCTTGATAGTCTCTTCAGAGCAAATCCAAAGGTA
GAAGAAAGAGAGAAAAGAGCCAAAAGCCTTGAAAGTCTCATCTATATGAGTACCCGGACAGATAAAGATGGCAAAGGAATCCAAAGCCTTGGAAGTCCGA
TTAAAGTTAATCAAAGGACTGACAAAAATGAGAAAGGAAGACAAAATCTCGAATCTGTTGCTAAAGTGAATGCCAGGATGAATAAAACGAGCAGAAGAAG
TGAAGACCTTGATAATGCTACTGAAGTAAATCCCAAAGGACATGAAAATACCACTGGAAAAAAAGACCTTGATGGGCTTATTAAAGTGGATCCTGAAACA
AATAAAAATATTACGAGGGGCCAGAGCCTTGATAATCTCATCAAAGTGACCCCTGAAGTAAAGAGAAGTAACCAAGGTTCCAAAGACCTTAATAACTTCA
TCAAAGTGTATCCAGGAACAGAAAAAAGTACTGAAGGGGGCCAAAGTCTCGACAGCCTCATTAAAGTGACTCCTGAAAGAAACAGAACTAACCAAGGGAA
CCAAGACTTGGAAAATCTTATCAAAGTGATCCCTTCAGCAAACAAAAGCAGTGAACAAGGTCTTGATGAACATATTAATGTCAGCCCCAAAGCTGTCAAA
AACACTGATGGAAAACAAGATCTTGATAAACTCATCAAGGTGAATCCTGAAATTTTCACAAACAACCAAAGAAACCAAGATCTTGCTAACCTCATCAAAG
TAAATCCTGCAGTAATCAGAAACAATCAGAGCCAAGACTTGGACAATCTTATTAAAGTGAAACCTTCAGCTCTTAGAAACACTAATCGAGACCAGAACCT
GGAAAATTTAATTGAAGTAAATTCTCATGTGTCTGAAAACAAGAATGGAAGCTCTAACACTGGAGCCAAGCAGGCAGGACCACAGGATACTGTTGTGTAC
ACAAGGACATATGTGGAGAATAGTAAATCACCCAAGGATGGATATCAGGAGAATATCTCTGGAAAATACATACAAACTGTTTATTCAACTTCTGATAGGT
CTGTCATTGAAAGAGATATGTGCACTTACTGCCGAAAACCCTTGGGTGTAGAAACTAAAATGATTTTAGATGAATTACAAATTTGCTGCCATTCTACTTG
CTTTAAGTGTGAAATATGCAAGCAGCCTTTGGAAAATCTACAAGCGGGTGATAGTATTTGGATTTATAGACAGACAATACACTGTGAACCTTGCTACTCT
AAAATTATGGCAAAGTGGATTCCATAACTCTGGCACAAGGAAATCAAGATGAAAAGCACTCATTAAGGAATTAAAGTTACAAGTTTTATCTTAATAATAT
GTAATCTAGAAAAGCTTTCACATTGAAGATCAACTCTTGTACAAAATTAACAATTCTGTTATTGCATAAGTAATCTAATTGTCTTCAATAAGGTCACACA
CATAAAAAGAGCCATCTGGTCTCTGGCTAGAGTTAGCAATAAAAAGTTCAAATGGTTCCAGA
  • refseq_SCEL.F1 (forward primer)
  • refseq_SCEL.R1 (reverse primer)
  • Single exon skipping

Frame 0

H*INSRFPFLSARSSQGITTGWLAKKS*FSAQ*
RSLLEGSMSNVTLRKMSPTGNEMKSTTQGTTRKQ
QDFHEVNKRRTFLQDNSWIKKRPEEEKDENYGR
VVLNRHNSHDALDRKVNERDVPKATISRYSSDD
TLDRISDRNDAAKTYKANTLDNQLTNRSMSMFRS
LEVTKLQPGGSLNANTSNTIASTSATTPVKKKR
QSWFPPPPPGYNASSSTGTRRREPGVHPPIPPK
PSSPVSSPNQLRQDNRQIHPPKPGVYTETNRSAE
RNISEELDNLIKMNKSLNRNQGLDSLFRANPKV
EEREKRAKSLESLIYMSTRTDKDGKGIQSLGSP
IKVNQRTDKNEKGRQNLESVAKVNARMNKTSRRS
EDLDNATEVNPKGHENTTGKKDLDGLIKVDPET
NKNITRGQSLDNLIKVTPEVKRSNQGSKDLNNF
IKVYPGTEKSTEGGQSLDSLIKVTPERNRTNQGN
QDLENLIKVIPSANKSSEQGLDEHINVSPKAVK
NTDGKQDLDKLIKVNPEIFTNNQRNQDLANLIK
VNPAVIRNNQSQDLDNLIKVKPSALRNTNRDQNL
ENLIEVNSHVSENKNGSSNTGAKQAGPQDTVVY
TRTYVENSKSPKDGYQENISGKYIQTVYSTSDR
SVIERDMCTYCRKPLGVETKMILDELQICCHSTC
FKCEICKQPLENLQAGDSIWIYRQTIHCEPCYS
KIMAKWIP*LWHKEIKMKSTH*GIKVTSFILII
CNLEKLSH*RSTLVQN*QFCYCISNLIVFNKVTH
IKRAIWSLARVSNKKFKWFQ

Frame 1

TE*TLGSHFFQPDPPRESLQAG*PKSPDFLLNR
GPYWKAACPMLP*EKCLPQEMR*RAPLREPHGS
SRIFTR*TKEELSYRITVG*RNALKKKKMKITVG
WCSTDIIPMMHWTGK*MREMCQKLQLVGTVLMT
LWTGSQTEMMLLKHIRPIPWITN*PIGACPCLD
HWK*QSCNLAVH*MPTPPTP*HPLLLLLL*RRRG
SPGFHRPLQVTMPPRAQEPGDGNQVFTLQYLQS
PVLLFLLLTS*DRIIGRYIHLNQVYIQKPTDLL
KEI*VKNWIISSK*TKA*IGIKVLIVSSEQIQR*
KKERKEPKALKVSSI*VPGQIKMAKESKALEVR
LKLIKGLTKMRKEDKISNLLLK*MPG*IKRAEE
VKTLIMLLK*IPKDMKIPLEKKTLMGLLKWILKQ
IKILRGARALIISSK*PLK*REVTKVPKTLITS
SKCIQEQKKVLKGAKVSTASLK*LLKETELTKG
TKTWKILSK*SLQQTKAVNKVLMNILMSAPKLSK
TLMENKILINSSR*ILKFSQTTKETKILLTSSK
*ILQ*SETIRAKTWTILLK*NLQLLETLIETRT
WKI*LK*ILMCLKTRMEALTLEPSRQDHRILLCT
QGHMWRIVNHPRMDIRRISLENTYKLFIQLLIG
LSLKEICALTAENPWV*KLK*F*MNYKFAAILL
ALSVKYASSLWKIYKRVIVFGFIDRQYTVNLATL
KLWQSGFHNSGTRKSR*KALIKELKLQVLS**Y
VI*KSFHIEDQLLYKINNSVIA*VI*LSSIRSH
T*KEPSGLWLELAIKSSNGSR

Frame 2

LNKL*VPISFSQILPGNHYRLVSQKVLIFCSIE
VLTGRQHVQCYLEKNVSHRK*DEEHHSGNHTEA
AGFSRGEQKKNFLTG*QLDKETP*RRKR*KLR*
GGAQPT*FP*CIGQESK*ERCAKSYN*SVQF**H
FGQDLRQK*CC*NI*GQYLG*PTNQ*EHVHV*I
TGSNKVATWRFIECQHLQHHSIHFCYYSCKEEE
AVLVSTAPSRLQCLLEHRNQETGTRCSPSNTSKA
QFSCFFS*PAETG**ADTST*TRCIYRNQQIC*
KKYK*RIG*SHQNEQKLE*ESRS**SLQSKSKG
RRKREKSQKP*KSHLYEYPDR*RWQRNPKPWKSD
*S*SKD*QK*ERKTKSRICC*SECQDE*NEQKK
*RP**CY*SKSQRT*KYHWKKRP*WAY*SGS*N
K*KYYEGPEP**SHQSDP*SKEK*PRFQRP**LH
QSVSRNRKKY*RGPKSRQPH*SDS*KKQN*PRE
PRLGKSYQSDPFSKQKQ*TRS**TY*CQPQSCQ
KH*WKTRS**THQGES*NFHKQPKKPRSC*PHQS
KSCSNQKQSEPRLGQSY*SETFSS*KH*SRPEP
GKFN*SKFSCV*KQEWKL*HWSQAGRTTGYCCV
HKDICGE**ITQGWISGEYLWKIHTNCLFNF**V
CH*KRYVHLLPKTLGCRN*NDFR*ITNLLPFYL
L*V*NMQAAFGKSTSG**YLDL*TDNTL*TLLL
*NYGKVDSITLAQGNQDEKHSLRN*SYKFYLNNM
*SRKAFTLKINSCTKLTILLLHK*SNCLQ*GHT
HKKSHLVSG*S*Q*KVQMVP

Sequence NM_144777

CACTGAATAAACTCTAGGTTCCCATTTCTTTCAGCCAGATCCTCCCAGGGAATCACTACAGGCTGGTTAGCCAAAAAGTCCTGATTTTCTGCTCAATAGA
GGTCCTTACTGGAAGGCAGCATGTCCAATGTTACCTTGAGAAAAATGTCTCCCACAGGAAATGAGATGAAGAGCACCACTCAGGGAACCACACGGAAGCA
GCAGGATTTTCACGAGGTGAACAAAAGAAGAACTTTCTTACAGGATAACAGTTGGATAAAGAAACGCCCTGAAGAAGAAAAAGATGAAAATTACGGTAGG
GTGGTGCTCAACCGACATAATTCCCATGATGCATTGGACAGGAAAGTAAATGAGAGAGATGTGCCAAAAGCTACAATTAGTCGGTACAGTTCTGATGACA
CTTTGGACAGGATCTCAGACAGAAATGATGCTGCTAAAACATATAAGGCCAATACCTTGGATAACCAACTAACCAATAGGAGCATGTCCATGTTTAGATC
ACTGGAAGTAACAAAGTTGCAACCTGGCGGTTCATTGAATGCCAACACCTCCAACACCATAGCATCCACTTCTGCTACTACTCCTGTAAAGAAGAAGAGG
CAGTCCTGGTTTCCACCGCCCCCTCCAGGTTACAATGCCTCCTCGAGCACAGGAACCAGGAGACGGGAACCAGGTGTTCACCCTCCAATACCTCCAAAGC
CCAGTTCTCCTGTTTCTTCTCCTAACCAGCTGAGACAGGATAATAGGCAGATACATCCACCTAAACCAGGTGTATATACAGAAACCAACAGATCTGCTGA
AAGAAATATAAGGAGTCAGGATCTTGATAACATCGTCAAAGTGGCCACTTCACTTCAGAGAAGTGACAAAGGTGAAGAATTGGATAATCTCATCAAAATG
AACAAAAGCTTGAATAGGAATCAAGGTCTTGATAGTCTCTTCAGAGCAAATCCAAAGGTAGAAGAAAGAGAGAAAAGAGCCAAAAGCCTTGAAAGTCTCA
TCTATATGAGTACCCGGACAGA
TAAAGATGGCAAAGGAATCCAAAGCCTTGGAAGTCCGATTAAAGTTAATCAAAGGACTGACAAAAATGAGAAAGGAAG
ACAAAATCTCGAATCTGTTGCTAAAGTGAATGCCAGGATGAATAAAACGAGCAGAAGAAGTGAAGACCTTGATAATGCTACTGAAGTAAATCCCAAAGGA
CATGAAAATACCACTGGAAAAAAAGACCTTGATGGGCTTATTAAAGTGGATCCTGAAACAAATAAAAATATTACGAGGGGCCAGAGCCTTGATAATCTCA
TCAAAGTGACCCCTGAAGTAAAGAGAAGTAACCAAGGTTCCAAAGACCTTAATAACTTCATCAAAGTGTATCCAGGAACAGAAAAAAGTACTGAAGGGGG
CCAAAGTCTCGACAGCCTCATTAAAGTGACTCCTGAAAGAAACAGAACTAACCAAGGGAACCAAGACTTGGAAAATCTTATCAAAGTGATCCCTTCAGCA
AACAAAAGCAGTGAACAAGGTCTTGATGAACATATTAATGTCAGCCCCAAAGCTGTCAAAAACACTGATGGAAAACAAGATCTTGATAAACTCATCAAGG
TGAATCCTGAAATTTTCACAAACAACCAAAGAAACCAAGATCTTGCTAACCTCATCAAAGTAAATCCTGCAGTAATCAGAAACAATCAGAGCCAAGACTT
GGACAATCTTATTAAAGTGAAACCTTCAGCTCTTAGAAACACTAATCGAGACCAGAACCTGGAAAATTTAATTGAAGTAAATTCTCATGTGTCTGAAAAC
AAGAATGGAAGCTCTAACACTGGAGCCAAGCAGGCAGGACCACAGGATACTGTTGTGTACACAAGGACATATGTGGAGAATAGTAAATCACCCAAGGATG
GATATCAGGAGAATATCTCTGGAAAATACATACAAACTGTTTATTCAACTTCTGATAGGTCTGTCATTGAAAGAGATATGTGCACTTACTGCCGAAAACC
CTTGGGTGTAGAAACTAAAATGATTTTAGATGAATTACAAATTTGCTGCCATTCTACTTGCTTTAAGTGTGAAATATGCAAGCAGCCTTTGGAAAATCTA
CAAGCGGGTGATAGTATTTGGATTTATAGACAGACAATACACTGTGAACCTTGCTACTCTAAAATTATGGCAAAGTGGATTCCATAACTCTGGCACAAGG
AAATCAAGATGAAAAGCACTCATTAAGGAATTAAAGTTACAAGTTTTATCTTAATAATATGTAATCTAGAAAAGCTTTCACATTGAAGATCAACTCTTGT
ACAAAATTAACAATTCTGTTATTGCATAAGTAATCTAATTGTCTTCAATAAGGTCACACACATAAAAAGAGCCATCTGGTCTCTGGCTAGAGTTAGCAAT
AAAAAGTTCAAATGGTTCCAGA
  • refseq_SCEL.F1 (forward primer)
  • refseq_SCEL.R1 (reverse primer)
  • Single exon skipping

Frame 0

H*INSRFPFLSARSSQGITTGWLAKKS*FSAQ*
RSLLEGSMSNVTLRKMSPTGNEMKSTTQGTTRKQ
QDFHEVNKRRTFLQDNSWIKKRPEEEKDENYGR
VVLNRHNSHDALDRKVNERDVPKATISRYSSDD
TLDRISDRNDAAKTYKANTLDNQLTNRSMSMFRS
LEVTKLQPGGSLNANTSNTIASTSATTPVKKKR
QSWFPPPPPGYNASSSTGTRRREPGVHPPIPPK
PSSPVSSPNQLRQDNRQIHPPKPGVYTETNRSAE
RNIRSQDLDNIVKVATSLQRSDKGEELDNLIKM
NKSLNRNQGLDSLFRANPKVEEREKRAKSLESL
IYMSTRTD
KDGKGIQSLGSPIKVNQRTDKNEKGR
QNLESVAKVNARMNKTSRRSEDLDNATEVNPKG
HENTTGKKDLDGLIKVDPETNKNITRGQSLDNL
IKVTPEVKRSNQGSKDLNNFIKVYPGTEKSTEGG
QSLDSLIKVTPERNRTNQGNQDLENLIKVIPSA
NKSSEQGLDEHINVSPKAVKNTDGKQDLDKLIK
VNPEIFTNNQRNQDLANLIKVNPAVIRNNQSQDL
DNLIKVKPSALRNTNRDQNLENLIEVNSHVSEN
KNGSSNTGAKQAGPQDTVVYTRTYVENSKSPKD
GYQENISGKYIQTVYSTSDRSVIERDMCTYCRKP
LGVETKMILDELQICCHSTCFKCEICKQPLENL
QAGDSIWIYRQTIHCEPCYSKIMAKWIP*LWHK
EIKMKSTH*GIKVTSFILIICNLEKLSH*RSTLV
QN*QFCYCISNLIVFNKVTHIKRAIWSLARVSN
KKFKWFQ

Frame 1

TE*TLGSHFFQPDPPRESLQAG*PKSPDFLLNR
GPYWKAACPMLP*EKCLPQEMR*RAPLREPHGS
SRIFTR*TKEELSYRITVG*RNALKKKKMKITVG
WCSTDIIPMMHWTGK*MREMCQKLQLVGTVLMT
LWTGSQTEMMLLKHIRPIPWITN*PIGACPCLD
HWK*QSCNLAVH*MPTPPTP*HPLLLLLL*RRRG
SPGFHRPLQVTMPPRAQEPGDGNQVFTLQYLQS
PVLLFLLLTS*DRIIGRYIHLNQVYIQKPTDLL
KEI*GVRILITSSKWPLHFREVTKVKNWIISSK*
TKA*IGIKVLIVSSEQIQR*KKERKEPKALKVS
SI*VPGQ
IKMAKESKALEVRLKLIKGLTKMRKE
DKISNLLLK*MPG*IKRAEEVKTLIMLLK*IPKD
MKIPLEKKTLMGLLKWILKQIKILRGARALIIS
SK*PLK*REVTKVPKTLITSSKCIQEQKKVLKG
AKVSTASLK*LLKETELTKGTKTWKILSK*SLQQ
TKAVNKVLMNILMSAPKLSKTLMENKILINSSR
*ILKFSQTTKETKILLTSSK*ILQ*SETIRAKT
WTILLK*NLQLLETLIETRTWKI*LK*ILMCLKT
RMEALTLEPSRQDHRILLCTQGHMWRIVNHPRM
DIRRISLENTYKLFIQLLIGLSLKEICALTAEN
PWV*KLK*F*MNYKFAAILLALSVKYASSLWKIY
KRVIVFGFIDRQYTVNLATLKLWQSGFHNSGTR
KSR*KALIKELKLQVLS**YVI*KSFHIEDQLL
YKINNSVIA*VI*LSSIRSHT*KEPSGLWLELAI
KSSNGSR

Frame 2

LNKL*VPISFSQILPGNHYRLVSQKVLIFCSIE
VLTGRQHVQCYLEKNVSHRK*DEEHHSGNHTEA
AGFSRGEQKKNFLTG*QLDKETP*RRKR*KLR*
GGAQPT*FP*CIGQESK*ERCAKSYN*SVQF**H
FGQDLRQK*CC*NI*GQYLG*PTNQ*EHVHV*I
TGSNKVATWRFIECQHLQHHSIHFCYYSCKEEE
AVLVSTAPSRLQCLLEHRNQETGTRCSPSNTSKA
QFSCFFS*PAETG**ADTST*TRCIYRNQQIC*
KKYKESGS**HRQSGHFTSEK*QR*RIG*SHQN
EQKLE*ESRS**SLQSKSKGRRKREKSQKP*KSH
LYEYPDR
*RWQRNPKPWKSD*S*SKD*QK*ERK
TKSRICC*SECQDE*NEQKK*RP**CY*SKSQR
T*KYHWKKRP*WAY*SGS*NK*KYYEGPEP**SH
QSDP*SKEK*PRFQRP**LHQSVSRNRKKY*RG
PKSRQPH*SDS*KKQN*PREPRLGKSYQSDPFS
KQKQ*TRS**TY*CQPQSCQKH*WKTRS**THQG
ES*NFHKQPKKPRSC*PHQSKSCSNQKQSEPRL
GQSY*SETFSS*KH*SRPEPGKFN*SKFSCV*K
QEWKL*HWSQAGRTTGYCCVHKDICGE**ITQGW
ISGEYLWKIHTNCLFNF**VCH*KRYVHLLPKT
LGCRN*NDFR*ITNLLPFYLL*V*NMQAAFGKS
TSG**YLDL*TDNTL*TLLL*NYGKVDSITLAQG
NQDEKHSLRN*SYKFYLNNM*SRKAFTLKINSC
TKLTILLLHK*SNCLQ*GHTHKKSHLVSG*S*Q
*KVQMVP

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