Basic information
Official Symbol PCSK4
Descriptionproprotein convertase subtilisin/kexin type 4
Other AliasesUNQ2757/PRO6496, PC4, SPC5
Other DescriptionNA
Mutation typepremature termination 233:D->TGA
LocationScaffold149964_1:1023768 1018020 -

  ±  bp flank
WikiWikipedia 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 speciePep lengthPep align beginPep align endMutaion type and postion
Human7551433Premature 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


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