Basic information |
Official Symbol | SPINT1 |
Description | serine peptidase inhibitor, Kunitz type 1 |
Other Aliases | UNQ223/PRO256, HAI, HAI1, MANSC2 |
Other Description | HAI-1; hepatocyte growth factor activator inhibitor type 1; kunitz-type protease inhibitor 1; serine protease inhibitor, Kunitz type 1 |
Mutation type | premature termination 321:G->TAG |
Location | Scaffold000605_1:2681750 2677916 - |
Wiki | Wikipedia GeneCard |
Sequence |
SPINT1 |
GTCCAGCCCCAGGAACCCGTGGTGCTGAAGGGTATGAACTACACAAACTG GCACCTGCTGAAGGGCGACACAGATGTCAGGATAGAGAGGAATGATCCAG ACCAGGTGGAGCTGTGGGGACTCAAGGAAGGCACCTACCTGTTCGAACTG ACCCTGCTGGACTCAGACCAGCCCGAGAACACGGCCAATGTCACGGTCAT CGTGCTGTCCGCCAGGCAGACAGAAGACTACTGCCTCGCCACCAGCAAGG TGGGCCGCTGCCGGGGTGCCTTCCCCCGCTGGTACTATGACCCCAGAGAA CAGATCTGCAAGCGTTTCATCTATGGAGGTTGCTTGGGCAACAAGAACAA CTACTTTTGGGAAGAAGAGTGCATGCTAGCCTGCCGGGATGTGCAAGGTA GGCCTTGGAAGGCAGCTCTGGGCTCAGGGGACTTTGCCCCGGGGTAGTGG TCTTTCCCTGCCACACACGCAGTATGCTCTGGCACCTGTCACCCGAGCCA GTTCCGCTGTGGTGACGGCTGCTGCATCGATGGCTTCCTGGAGTGTGACG ACACCCCCGACTGCTCTGACGCCTCTGATGAGGCCGCCTGTGAAAAATGT GAGAGGTCCCAGCGCTCATGCGCCCCTCTGCCTGCCCCTTGCCCCCCAGG GCACTGCATGGAGCAGCCAGATACAGGACTCTGCCAGGAGAGCATCCCCC GCTGGTACTACAACCCCTTCATGGAGAGCTGCGCCCTCTTCACCTATGGC GGCTGTTACGGCAACAAGAACAACTTCGAGGAGGAGCAGCAGTGCCTGGA GTCCTGTCGCGGCATCTCCAGTGAGCGGGACGGTGGGGGTGGGAAGGACG CGCCCCTTCTCCCCGCAGGCTCTGTGGAGGTTGCCATCGCAGTCCTCCTG GGCACCTGCATCGTGGTAGTGGTAGCCATTCTGGGATACTGCTTCTTCAA GAACCAGAAGAAGGGCTTCCGCAGACACCACCACCGCCACCACCCACCCT CCACCCCTGCCAGCTCCACCATCTCCACCACCGAGGACACGGAGCACCTG GTCTATAATCACACAACCCGACCCCTC |
Alignment |
Align specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
Human | 529 | 173 | 529 | Premature termination 321:G->TAG |
Instructions: *** -> premature termination codon; # -> frame shift Alignment: Human pep sequence ---> |||||||||||||||||||||| Treeshrew pep sequence ---> Treeshrew cds sequence ---> ValGlnProGlnGluProLeuValLeuLysAspValGluAsnThrAspTrpArgLeuLeuAr |||||||||||||||||| ||||||||| ||| ||| |||||| ValGlnProGlnGluProValValLeuLysGlyMetAsnTyrThrAsnTrpHisLeuLeuLy GTCCAGCCCCAGGAACCCGTGGTGCTGAAGGGTATGAACTACACAAACTGGCACCTGCTGAA gGlyAspThrAspValArgValGlu >>>> Target Intron 1 >>>> ArgLysAs |||||||||||||||||| ||| 223 bp ||| || sGlyAspThrAspValArgIleGlu++ ++ArgAsnAs GGGCGACACAGATGTCAGGATAGAGgt agAGGAATGA pProAsnGlnValGluLeuTrpGlyLeuLysGluGlyThrTyrLeuPheGlnLeuThrValT |||| |||||||||||||||||||||||||||||||||||||||||| |||||| pProAspGlnValGluLeuTrpGlyLeuLysGluGlyThrTyrLeuPheGluLeuThrLeuL TCCAGACCAGGTGGAGCTGTGGGGACTCAAGGAAGGCACCTACCTGTTCGAACTGACCCTGC hrSerSerAspHisProGluAspThrAlaAsnValThrValThrValLeuSerThrLysGln |||||| |||||| |||||||||||||||||| ||||||||| ||| euAspSerAspGlnProGluAsnThrAlaAsnValThrValIleValLeuSerAlaArgGln TGGACTCAGACCAGCCCGAGAACACGGCCAATGTCACGGTCATCGTGCTGTCCGCCAGGCAG ThrGlu{A} >>>> Target Intron 2 >>>> {sp}TyrCysLeuAlaSerAsnLy ||||||{|} 79 bp {||}|||||||||||| || ThrGlu{A}++ ++{sp}TyrCysLeuAlaThrSerLy ACAGAA{G}gt ag{AC}TACTGCCTCGCCACCAGCAA sValGlyArgCysArgGlySerPheProArgTrpTyrTyrAspProThrGluGlnIleCysL ||||||||||||||||||| |||||||||||||||||||||||| ||||||||||||| sValGlyArgCysArgGlyAlaPheProArgTrpTyrTyrAspProArgGluGlnIleCysL GGTGGGCCGCTGCCGGGGTGCCTTCCCCCGCTGGTACTATGACCCCAGAGAACAGATCTGCA ysSerPheValTyrGlyGlyCysLeuGlyAsnLysAsnAsnTyrLeuArgGluGluGluCys || ||| ||||||||||||||||||||||||||||||||| |||||||||||| ysArgPheIleTyrGlyGlyCysLeuGlyAsnLysAsnAsnTyrPheTrpGluGluGluCys AGCGTTTCATCTATGGAGGTTGCTTGGGCAACAAGAACAACTACTTTTGGGAAGAAGAGTGC IleLeuAlaCysArgGlyValGlnGlyGlyProLeuArgGlySerSerGlyAlaGlnAlaTh |||||||||||| ||||||||| ||| ||| MetLeuAlaCysArgAspValGlnGlyArgProTrpLysAlaAlaLeuGlySerGlyAspPh ATGCTAGCCTGCCGGGATGTGCAAGGTAGGCCTTGGAAGGCAGCTCTGGGCTCAGGGGACTT rPheProGlnGlyProSerMetGlu{A} >>>> Target Intron 3 >>>> {rg}A ||| ||| { } 480 bp { } eAlaProGly***TrpSerPhePro{A}++ --{la}T TGCCCCGGGGTAGTGGTCTTTCCCT{G}gt cc{CC}A rgHisProValCysSerGlyThrCysGlnProThrGlnPheArgCysSerAsnGlyCysCys ||| |||||||||||||||||| ||| |||||||||||| ||||||||| hrHisAlaValCysSerGlyThrCysHisProSerGlnPheArgCysGlyAspGlyCysCys CACACGCAGTATGCTCTGGCACCTGTCACCCGAGCCAGTTCCGCTGTGGTGACGGCTGCTGC IleAspSerPheLeuGluCysAspAspThrProAsnCysProAspAlaSerAspGluAlaAl |||||| |||||||||||||||||||||||| ||| |||||||||||||||||||| IleAspGlyPheLeuGluCysAspAspThrProAspCysSerAspAlaSerAspGluAlaAl ATCGATGGCTTCCTGGAGTGTGACGACACCCCCGACTGCTCTGACGCCTCTGATGAGGCCGC aCysGluLysTyrThr >>>> Target Intron 4 >>>> SerGlyPheAspGluLe |||||||||| 1361 bp aCysGluLysCysGlu++ ++ArgSerGlnArgSerCy CTGTGAAAAATGTGAGgt agAGGTCCCAGCGCTCATG uGlnArgIleHisPheProSerAspLysGlyHisCysValAspLeuProAspThrGlyLeuC ||| ||||||||| |||||||||||||||| sAlaProLeuProAlaProCysProProGlyHisCysMetGluGlnProAspThrGlyLeuC CGCCCCTCTGCCTGCCCCTTGCCCCCCAGGGCACTGCATGGAGCAGCCAGATACAGGACTCT ysLysGluSerIleProArgTrpTyrTyrAsnProPheSerGluHisCysAlaArgPheThr || ||||||||||||||||||||||||||||||||| ||| |||||| |||||| ysGlnGluSerIleProArgTrpTyrTyrAsnProPheMetGluSerCysAlaLeuPheThr GCCAGGAGAGCATCCCCCGCTGGTACTACAACCCCTTCATGGAGAGCTGCGCCCTCTTCACC TyrGlyGlyCysTyrGlyAsnLysAsnAsnPheGluGluGluGlnGlnCysLeuGluSerCy |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| TyrGlyGlyCysTyrGlyAsnLysAsnAsnPheGluGluGluGlnGlnCysLeuGluSerCy TATGGCGGCTGTTACGGCAACAAGAACAACTTCGAGGAGGAGCAGCAGTGCCTGGAGTCCTG sArgGlyIleSerLysLysAspValPheGlyLeuArgArg{G} >>>> Target Intro ||||||||||||| ||| { } 615 bp sArgGlyIleSerSerGluArgAspGlyGlyGlyGlyLys{A}++ TCGCGGCATCTCCAGTGAGCGGGACGGTGGGGGTGGGAAG{G}gt n 5 >>>> {lu}IleProIleProSerThrGlySerValGluMetAlaValAlaValPhe { } ||| |||||||||||| ||| |||||| --{sp}AlaProLeuLeuProAlaGlySerValGluValAlaIleAlaValLeu tc{AC}GCGCCCCTTCTCCCCGCAGGCTCTGTGGAGGTTGCCATCGCAGTCCTC LeuValIleCysIleValValValValAlaIleLeuGlyTyrCysPhePheLysAsnGlnAr ||| ||||||||||||||||||||||||||||||||||||||||||||||||||| LeuGlyThrCysIleValValValValAlaIleLeuGlyTyrCysPhePheLysAsnGlnLy CTGGGCACCTGCATCGTGGTAGTGGTAGCCATTCTGGGATACTGCTTCTTCAAGAACCAGAA gLysAspPhe<-><->HisGlyHisHisHisHisProProProThrProAlaSerSerThrV ||| ||| ||| ||| |||||||||||| |||||||||||||||||| sLysGlyPheArgArgHisHisHisArgHisHisProProSerThrProAlaSerSerThrI GAAGGGCTTCCGCAGACACCACCACCGCCACCACCCACCCTCCACCCCTGCCAGCTCCACCA alSerThrThrGluAspThrGluHisLeuValTyrAsnHisThrThrArgProLeu |||||||||||||||||||||||||||||||||||||||||||||||||||||| leSerThrThrGluAspThrGluHisLeuValTyrAsnHisThrThrArgProLeu TCTCCACCACCGAGGACACGGAGCACCTGGTCTATAATCACACAACCCGACCCCTC // |