Basic information |
Official Symbol | PCSK4 |
Description | proprotein convertase subtilisin/kexin type 4 |
Other Aliases | UNQ2757/PRO6496, PC4, SPC5 |
Other Description | NA |
Mutation type | premature termination 233:D->TGA |
Location | Scaffold149964_1:1023768 1018020 - |
Wiki | Wikipedia GeneCard |
Sequence |
PCSK4 |
ATGCGGCCCGCCCCGACTTCGCTCTGGCTGCGCCTGACCTTGGCCCTGGG TCTGGCCCTCGTTGGCCTCCTGGCCCCAGGGTGGGCCTCGGCCAGGGCCC CCATCTACGTTAGCAGCTGGGCCGTGCGGGTATCCCTGGGTTACCCGGAG GCCCAGCGCCTAGCACGCAAATTGGGCTTCGTCAACCTAGGGCAGATCTT TCCTGACGGGCAGTATTTCCACCTGCGGCACCGGGGCGTGGCCCCACAGT CCCTGACCCCACACTGGGGCCACTGCCTCCGTCTGAAGAAAGACCCCAAG GTGCAGTGGTTCGAGCAGCAGACTGTGCGGCGACGCAGGAAGCGCTCCCT GGCCGTGCCCTCGGACCCCTGGTTCTCCAAGCAGTGGTATATGAACAGCG AGGTGCAGCCGGACCTGAACATCCTGCAGGCCTGGGGCCAGGGCCTGTCG GGCCAGGGTGTCGTGGTGTCCATCTTGGACGACGGCATCGAGAAGGACCA CCCGGACCTCTGGGCCAACTACGACCCACGGGCCAGCTACGACTTCAACG ACTACGATCCGGACCCCCAGCCTCGATATACGCCCAGCGATGAGAACCGA CACGGGACACGCTGTGCTGGGGAGGTGGCAGCAGTGGCAGACAATGGCTT CTGCGGCACCGGGGTCGCCTTCAACGCCCGCATTGGAGGTACCCGGGCCC TCTGAGGGGCCCCGCAGCGGCAGAGGGTGACGGGCGTGCGGATGCTGGAC GGCCCCATCACGGACGTGGTGGAGGCCCAGTGGGGCCCCGAGGACGACGG CCGTACCGTGGACGGCCCGGGCGTGCTCACCCGCGAGGCCTTCCAGCGCG GCGTGACCCAGGGCCGTGGCGGGCTGGGCACGCTGTTCGTCTGGGCGTCG GGCAACGGCGGCTTGCACTACGACAACTGCAACTGTGACGGCTACACCAA CAGCATCCACACGCTGTCCGTGGGCAGCGTCACCCGGCAGGGCCACGTGC CCTGGTACAGCGAGGCCTGTGCCTCCATGCTCACCACCACCTACAGCAGC GGGGTGGCTGCCGACCCCCAGATCGTCACCACGGACCTGCACCACCAGTG CACGGACAAGCACACGGGCACGTCTGCCTCGGCCCCGCTGGCGGCCGGCA TCATCGCCCTGGCTCTGGAGGCCAACCCGTTCCTGACGTGGAGGGACATG CAGCACCTGGTGGTCCGCGCGTCCAAGCCCGCCCAGCTGCAGGCCGAGGA CTGGAGGACCAACGGCGTGGGGCGCAGAGTGAGCCACCACTACGGCTACC GGCTG |
Alignment |
Align specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
Human | 755 | 1 | 433 | Premature termination 233:D->TGA |
Instructions: *** -> premature termination codon; # -> frame shift Alignment: Human pep sequence ---> |||||||||||||||||||||| Treeshrew pep sequence ---> Treeshrew cds sequence ---> MetArgProAlaProIleAlaLeuTrpLeuArgLeuValLeuAla<-><->LeuAlaLeu ||||||||||||||| ||||||||||||||| |||||| ||||||||| MetArgProAlaProThrSerLeuTrpLeuArgLeuThrLeuAlaLeuGlyLeuAlaLeu ATGCGGCCCGCCCCGACTTCGCTCTGGCTGCGCCTGACCTTGGCCCTGGGTCTGGCCCTC ValArgProArgAlaValGlyTrpAlaProValArgAlaProIleTyrValSerSerTrp ||| ||| ||||||||| ||||||||||||||||||||||||||| ValGlyLeuLeuAlaProGlyTrpAlaSerAlaArgAlaProIleTyrValSerSerTrp GTTGGCCTCCTGGCCCCAGGGTGGGCCTCGGCCAGGGCCCCCATCTACGTTAGCAGCTGG AlaValGlnValSerGlnGlyAsnArgGluValGluArgLeuAlaArgLysPheGlyPhe |||||| |||||| ||| ||| ||||||||||||||| |||||| AlaValArgValSerLeuGlyTyrProGluAlaGlnArgLeuAlaArgLysLeuGlyPhe GCCGTGCGGGTATCCCTGGGTTACCCGGAGGCCCAGCGCCTAGCACGCAAATTGGGCTTC ValAsnLeuGlyPro >>>> Target Intron 1 >>>> IlePheProAspGlyG |||||||||||| 215 bp |||||||||||||||| ValAsnLeuGlyGln++ ++IlePheProAspGlyG GTCAACCTAGGGCAGgt agATCTTTCCTGACGGGC lnTyrPheHisLeuArgHisArgGlyValValGlnGlnSerLeuThrProHisTrpGlyH ||||||||||||||||||||||||||||| ||||||||||||||||||||||||| lnTyrPheHisLeuArgHisArgGlyValAlaProGlnSerLeuThrProHisTrpGlyH AGTATTTCCACCTGCGGCACCGGGGCGTGGCCCCACAGTCCCTGACCCCACACTGGGGCC isArgLeuHisLeuLysLysAsnProLys >>>> Target Intron 2 >>>> Va || ||| ||||||||| |||||| 2633 bp || isCysLeuArgLeuLysLysAspProLys++ ++Va ACTGCCTCCGTCTGAAGAAAGACCCCAAGgt agGT lGlnTrpPheGlnGlnGlnThrLeuGlnArgArgValLysArgSerValValValProTh |||||||||| ||||||||| |||||| ||||||||| |||||| lGlnTrpPheGluGlnGlnThrValArgArgArgArgLysArgSerLeuAlaValProSe GCAGTGGTTCGAGCAGCAGACTGTGCGGCGACGCAGGAAGCGCTCCCTGGCCGTGCCCTC rAspProTrpPheSerLysGlnTrpTyrMet >>>> Target Intron 3 >>>> |||||||||||||||||||||||||||||| 68 bp rAspProTrpPheSerLysGlnTrpTyrMet++ ++ GGACCCCTGGTTCTCCAAGCAGTGGTATATGgt ag AsnSerGluAlaGlnProAspLeuSerIleLeuGlnAlaTrpSerGlnGlyLeuSerGly ||||||||| |||||||||||| ||||||||||||||| ||||||||||||||| AsnSerGluValGlnProAspLeuAsnIleLeuGlnAlaTrpGlyGlnGlyLeuSerGly AACAGCGAGGTGCAGCCGGACCTGAACATCCTGCAGGCCTGGGGCCAGGGCCTGTCGGGC GlnGlyIleValValSerValLeuAspAspGlyIleGluLysAspHisProAspLeuTrp |||||| ||||||||| ||||||||||||||||||||||||||||||||||||||| GlnGlyValValValSerIleLeuAspAspGlyIleGluLysAspHisProAspLeuTrp CAGGGTGTCGTGGTGTCCATCTTGGACGACGGCATCGAGAAGGACCACCCGGACCTCTGG AlaAsnTyr >>>> Target Intron 4 >>>> AspProLeuAlaSerTyrAspP ||||||||| 82 bp |||||| ||||||||||||| AlaAsnTyr++ ++AspProArgAlaSerTyrAspP GCCAACTACgt agGACCCACGGGCCAGCTACGACT heAsnAspTyrAspProAspProGlnProArgTyrThrProSerLysGluAsn{Ar} > |||||||||||||||||||||||||||||||||||||||||||| ||||||{||} heAsnAspTyrAspProAspProGlnProArgTyrThrProSerAspGluAsn{Ar}++ TCAACGACTACGATCCGGACCCCCAGCCTCGATATACGCCCAGCGATGAGAAC{CG}gt >>> Target Intron 5 >>>> {g}HisGlyThrArgCysAlaGlyGluValAlaA 90 bp {|}||||||||||||||||||||||||||||||| ++{g}HisGlyThrArgCysAlaGlyGluValAlaA ag{A}CACGGGACACGCTGTGCTGGGGAGGTGGCAG laMetAlaAsnAsnGlyPheCysGlyValGlyValAlaPheAsnAlaArgIleGlyGlyV || ||| ||||||||||||||| |||||||||||||||||||||||||||||| laValAlaAspAsnGlyPheCysGlyThrGlyValAlaPheAsnAlaArgIleGlyGlyT CAGTGGCAGACAATGGCTTCTGCGGCACCGGGGTCGCCTTCAACGCCCGCATTGGAGGTA alArgMetLeuAspGlyThrIleThrAspValIleGluAla{G} >>>> Target In ||| ||| ||| { } 505 hrArgAlaLeu***GlyAlaProGlnArgGlnArgValThr{G}++ CCCGGGCCCTCTGAGGGGCCCCGCAGCGGCAGAGGGTGACG{G}gt tron 6 >>>> {ln}SerLeuSerLeuGlnProGlnHisIleHisIleTyrSerAlaS bp { } ||| ||| ++{ly}ValArgMetLeuAspGlyProIleThrAspValValGluAlaG ag{GC}GTGCGGATGCTGGACGGCCCCATCACGGACGTGGTGGAGGCCC erTrpGlyProGluAspAspGlyArgThrValAspGlyProGlyIleLeuThrArgGluA |||||||||||||||||||||||||||||||||||||||||| ||||||||||||| lnTrpGlyProGluAspAspGlyArgThrValAspGlyProGlyValLeuThrArgGluA AGTGGGGCCCCGAGGACGACGGCCGTACCGTGGACGGCCCGGGCGTGCTCACCCGCGAGG laPheArgArgGlyValThrLys >>>> Target Intron 7 >>>> GlyArgGl ||||| |||||||||||| 75 bp |||||||| laPheGlnArgGlyValThrGln++ ++GlyArgGl CCTTCCAGCGCGGCGTGACCCAGgt agGGCCGTGG yGlyLeuGlyThrLeuPheIleTrpAlaSerGlyAsnGlyGlyLeuHisTyrAspAsnCy ||||||||||||||||||| |||||||||||||||||||||||||||||||||||||| yGlyLeuGlyThrLeuPheValTrpAlaSerGlyAsnGlyGlyLeuHisTyrAspAsnCy CGGGCTGGGCACGCTGTTCGTCTGGGCGTCGGGCAACGGCGGCTTGCACTACGACAACTG sAsnCysAspGlyTyrThrAsnSerIleHisThrLeuSerValGlySerThrThrGlnGl ||||||||||||||||||||||||||||||||||||||||||||||||| ||| || sAsnCysAspGlyTyrThrAsnSerIleHisThrLeuSerValGlySerValThrArgGl CAACTGTGACGGCTACACCAACAGCATCCACACGCTGTCCGTGGGCAGCGTCACCCGGCA nGlyArgValProTrpTyrSerGluAlaCysAlaSerThrLeuThrThrThrTyrSerSe |||| |||||||||||||||||||||||||||||| |||||||||||||||||||| nGlyHisValProTrpTyrSerGluAlaCysAlaSerMetLeuThrThrThrTyrSerSe GGGCCACGTGCCCTGGTACAGCGAGGCCTGTGCCTCCATGCTCACCACCACCTACAGCAG rGlyValAlaThrAspProGlnIle >>>> Target Intron 8 >>>> ValThr |||||||||| |||||||||||| 533 bp |||||| rGlyValAlaAlaAspProGlnIle++ ++ValThr CGGGGTGGCTGCCGACCCCCAGATCgt agGTCACC ThrAspLeuHisHisGlyCysThrAspGlnHisThrGlyThrSerAlaSerAlaProLeu ||||||||||||||| ||||||||| |||||||||||||||||||||||||||||| ThrAspLeuHisHisGlnCysThrAspLysHisThrGlyThrSerAlaSerAlaProLeu ACGGACCTGCACCACCAGTGCACGGACAAGCACACGGGCACGTCTGCCTCGGCCCCGCTG AlaAlaGlyMetIleAlaLeuAlaLeuGluAla{As} >>>> Target Intron 9 ||||||||| |||||||||||||||||||||{||} 72 bp AlaAlaGlyIleIleAlaLeuAlaLeuGluAla{As}++ GCGGCCGGCATCATCGCCCTGGCTCTGGAGGCC{AA}gt >>>> {n}ProPheLeuThrTrpArgAspMetGlnHisLeuValValArgAlaSerLys {|}||||||||||||||||||||||||||||||||||||||||||||||||||| ++{n}ProPheLeuThrTrpArgAspMetGlnHisLeuValValArgAlaSerLys ag{C}CCGTTCCTGACGTGGAGGGACATGCAGCACCTGGTGGTCCGCGCGTCCAAG ProAlaHisLeuGlnAlaGluAspTrpArgThrAsnGlyValGlyArgGln{V} >>>> |||||| ||||||||||||||||||||||||||||||||||||||| {|} ProAlaGlnLeuGlnAlaGluAspTrpArgThrAsnGlyValGlyArgArg{V}++ CCCGCCCAGCTGCAGGCCGAGGACTGGAGGACCAACGGCGTGGGGCGCAGA{G}gt Target Intron 10 >>>> {al}SerHisHisTyrGlyTyrGlyLeu 171 bp {||}|||||||||||||||||| ||| ++{al}SerHisHisTyrGlyTyrArgLeu ag{TG}AGCCACCACTACGGCTACCGGCTG // |