Basic information |
Official Symbol | C1RL |
Description | complement component 1, r subcomponent-like |
Other Aliases | C1RL1, C1RLP, C1r-LP, CLSPa |
Other Description | C1r-like protein; C1r-like serine protease analog protein; complement C1r subcomponent-like protein; complement C1r-like proteinase |
Mutation type | Delete and frame-shift 8:G->G |
Location | Scaffold149011_1:182943 194770 + |
Wiki | Wikipedia GeneCard |
Sequence |
C1RL |
CCAGGTCCCAGAGTCTGGGAACTATCTCTGGAAAAGCCCTCACTCCGCAAGCTGCCCAGG CATGTGGTGGCTGCTCCTCTGGGGAGCCCTCCAGGCTTGCCCCACACAAACCTCTGTCCT CTTGGCCCAGCAGCTACCTCAGCAGCTGACATCCCCCAAGTACCCAGAACCGTATCTCAA AGGCCAAGAGAGCACCACTGACATCGAGGCTCCAGAAGGCTTTGCCGTGAGGCTCATCTT CCGGGACTTCGACCTGGAGCCATCCCAGGACTGTGAACAGGACTTTGTCACAATCTCGGC CCACGGGATAGAGCCAAGCCGGTTCTGTGGCCAGCAGGAGCCCCCTCTGGGCAGCCCTCC TGGTCACAGGGAGTTCGTGTCCTCAGGGAGGACTCTGCGGCTGACCTTCCATGCACACAG CTCCTCCAAGGACAAGAGCACCCCCCTCCACAAGGGCTTCTTGGCCCTCTACCAGGCCGT GGTGAACTGTAGCCAGCCCATCGGCAAGGCCAGCGGCAGCTCGGAGGCTGTCGGCACACC TGCAGATGACCCCTCTGAGACCCAGAACCACTGCCAAGAACCCTATTACCAGACGGTACC AGCAACACTCACCTGCACAGACCGGGGAACCCGGAAGGACAGACAGGATGGGGAGCAGGC ACCTCGGTGTGAGCCTTGTGGACGGCCGGTCATCCCCATTGCCCAGAACCACAAGACCCA TGGCTCCTCCAGAGCTAAGCCAGGCAACTTCCCCTGGCAAGCCTTCACCAACATCTATGG CCGTGGAGGCGGAGCCCTGCTGGGCGACAGATGGATCCTCACCGCCGCCCATACCATCTA CCCCAAGGACAGCATCTCTGCCAGGAGGAACCTGAGCGTGGATGTCTTCCTGGGCCACAC AGACATCGAAGAGATGCTGAAACGGGGAAACCATCCCGTCCGCCGCGTTGTTGTGCATCC AGACTACCGTCAGGACGAGTCCCACAACTTTGATGGGGACATCGCACTCCTGGAGCTCCA GCACCAGGTCCCCCTGGGCCCCCATGTCCTCCCGGTCTGTCTGCCTGACAACGAGACTTT CTACCGCAGCGGCTTGTTGGGCTACGTCAGTGGGTTTGGGGTGGAGGCAGGCTGGTTAAC GACCAAGCTGAAGTACTCCAGGCTGCCCGTGGCTCCGAGAGAGGCCTGTGAGGCCTGGCT CCGACAGAGGCAGAGCACTGAGGTGTTTTCCGGCAACATGTTCTGCGTCGGAAATGAGAC GCAGATACACAGTGCCTGCCAGGGGGACAGTGGTAGTGTCTATGTGGTATGGGATGACCA TGCCCATCGCTGGGTGGCCACGGGTATCGTATCTTGGGGCATTGGGTGTGGCAAGGGGTA TGACTTCTACACCAAAGTTCTCAGCTACGTGGACTGGATCCGGAGAGTGATGGATGGCAG GGAC |
Alignment |
Align specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
Human | 487 | 2 | 487 | Delete and frame-shift 8:G->G |
Instructions: *** -> premature termination codon; # -> frame shift Alignment: Human pep sequence ---> |||||||||||||||||||||| Treeshrew pep sequence ---> Treeshrew cds sequence ---> ProGlyProArgValTrpGlyLysTyrLeuTrpArgSerProHisSerLysGlyCysProGly |||||||||||||||||| ||||||||| |||||||||||| ||||||||| ProGlyProArgValTrp---AsnTyrLeuTrpLysSerProHisSerAlaSerCysProGly CCAGGTCCCAGAGTCTGGG##AACTATCTCTGGAAAAGCCCTCACTCCGCAAGCTGCCCAGGC Ala{Me} >>>> Target Intron 1 >>>> {t}TrpTrpLeuLeuLeuTrpGlyVal {||} 480 bp {|}||||||||||||||||||||| Met{Me}++ ++{t}TrpTrpLeuLeuLeuTrpGlyAla ATG{AT}gt ag{G}TGGTGGCTGCTCCTCTGGGGAGCC LeuGlnAlaCysProThrArgGlySerValLeuLeuAlaGlnGluLeuProGlnGlnLeuThr |||||||||||||||||| |||||||||||||||||| |||||||||||||||||| LeuGlnAlaCysProThrGlnThrSerValLeuLeuAlaGlnGlnLeuProGlnGlnLeuThr CTCCAGGCTTGCCCCACACAAACCTCTGTCCTCTTGGCCCAGCAGCTACCTCAGCAGCTGACA SerProGlyTyrProGluProTyrGlyLysGlyGlnGluSerSerThrAspIleLysAlaPro |||||| ||||||||||||||| ||||||||||||||| ||||||||| |||||| SerProLysTyrProGluProTyrLeuLysGlyGlnGluSerThrThrAspIleGluAlaPro TCCCCCAAGTACCCAGAACCGTATCTCAAAGGCCAAGAGAGCACCACTGACATCGAGGCTCCA GluGlyPheAlaValArgLeuValPheGlnAspPheAspLeuGluProSerGlnAspCysAla ||||||||||||||||||||| ||| |||||||||||||||||||||||||||||| GluGlyPheAlaValArgLeuIlePheArgAspPheAspLeuGluProSerGlnAspCysGlu GAAGGCTTTGCCGTGAGGCTCATCTTCCGGGACTTCGACCTGGAGCCATCCCAGGACTGTGAA GlyAspSerValThr >>>> Target Intron 2 >>>> IleSerPheValGlySerA ||| |||||| 4690 bp |||||| ||| GlnAspPheValThr++ ++IleSerAlaHisGlyIleG CAGGACTTTGTCACAgt agATCTCGGCCCACGGGATAG spProSerGlnPheCysGlyGlnGlnGlySerProLeuGlyArgProProGlyGlnArgG |||||| ||||||||||||||| ||||||||| ||||||||| |||| luProSerArgPheCysGlyGlnGlnGluProProLeuGlySerProProGlyHisArgG AGCCAAGCCGGTTCTGTGGCCAGCAGGAGCCCCCTCTGGGCAGCCCTCCTGGTCACAGGG luPheValSerSerGlyArgSerLeuArgLeuThrPheArgThrGlnProSerSerGluA |||||||||||||||||||| ||||||||||||||| |||||| luPheValSerSerGlyArgThrLeuArgLeuThrPheHisAlaHisSerSerSerLysA AGTTCGTGTCCTCAGGGAGGACTCTGCGGCTGACCTTCCATGCACACAGCTCCTCCAAGG snLysThrAlaHisLeuHisLysGlyPheLeuAlaLeuTyrGlnThrVal{A} >>>> ||| |||||||||||||||||||||||||||||| |||{|} spLysSerThrProLeuHisLysGlyPheLeuAlaLeuTyrGlnAlaVal{A}++ ACAAGAGCACCCCCCTCCACAAGGGCTTCTTGGCCCTCTACCAGGCCGTG{G}gt Target Intron 3 >>>> {la}ValAsnTyrSerGlnProIleSerGluAlaSerA 823 bp {||}|||||| |||||||||||| |||||| ++{la}ValAsnCysSerGlnProIleGlyLysAlaSerG ag{CT}GTGAACTGTAGCCAGCCCATCGGCAAGGCCAGCG rgGlySerGluAlaIleAsnAlaProGlyAspAsnProAlaLysValGlnAsnHisCysG ||||||||| ||| ||| ||| ||||||||||||| lySerSerGluAlaValGlyThrProAlaAspAspProSerGluThrGlnAsnHisCysG GCAGCTCGGAGGCTGTCGGCACACCTGCAGATGACCCCTCTGAGACCCAGAACCACTGCC lnGluProTyrTyrGlnAlaAlaAlaAla{G} >>>> Target Intron 4 >>>> ||||||||||||||||| |||{|} 138 bp lnGluProTyrTyrGlnThrValProAla{G}++ + AAGAACCCTATTACCAGACGGTACCAGCA{G}gt a {ly}AlaLeuThrCysAlaThrProGlyThrTrpLysAspArgGlnAspGlyGluGluV {||} ||||||||| |||||| ||||||||||||||||||||| +{ly}ThrLeuThrCysThrAspArgGlyThrArgLysAspArgGlnAspGlyGluGlnA g{GG}ACACTCACCTGCACAGACCGGGGAACCCGGAAGGACAGACAGGATGGGGAGCAGG alLeuGlnCysMetPro{V} >>>> Target Intron 5 >>>> {al}CysGlyA ||| |||{|} 4241 bp {||}||||||| laProArgCysGluPro{V}++ ++{al}CysGlyA CACCTCGGTGTGAGCCT{G}gt ag{TC}TGTGGAC rgProValThrProIleAlaGlnAsnGlnThrThrLeuGlySerSerArgAlaLysLeuG |||||||| ||||||||||||||| ||| |||||||||||||||||| | rgProValIleProIleAlaGlnAsnHisLysThrHisGlySerSerArgAlaLysProG GGCCGGTCATCCCCATTGCCCAGAACCACAAGACCCATGGCTCCTCCAGAGCTAAGCCAG lyAsnPheProTrpGlnAlaPheThrSerIleHisGlyArgGlyGlyGlyAlaLeuLeuG |||||||||||||||||||||||||| ||| ||||||||||||||||||||||||| lyAsnPheProTrpGlnAlaPheThrAsnIleTyrGlyArgGlyGlyGlyAlaLeuLeuG GCAACTTCCCCTGGCAAGCCTTCACCAACATCTATGGCCGTGGAGGCGGAGCCCTGCTGG lyAspArgTrpIleLeuThrAlaAlaHisThrIleTyrProLysAspSerValSerLeuA |||||||||||||||||||||||||||||||||||||||||||||||||| ||| | lyAspArgTrpIleLeuThrAlaAlaHisThrIleTyrProLysAspSerIleSerAlaA GCGACAGATGGATCCTCACCGCCGCCCATACCATCTACCCCAAGGACAGCATCTCTGCCA rgLysAsnGlnSerValAsnValPheLeuGlyHisThrAlaIleAspGluMetLeuLysL || ||| |||||| |||||||||||||||||| ||| |||||||||||| rgArgAsnLeuSerValAspValPheLeuGlyHisThrAspIleGluGluMetLeuLysA GGAGGAACCTGAGCGTGGATGTCTTCCTGGGCCACACAGACATCGAAGAGATGCTGAAAC euGlyAsnHisProValHisArgValValValHisProAspTyrArgGlnAsnGluSerH ||||||||||||||| |||||||||||||||||||||||||||||| ||||||| rgGlyAsnHisProValArgArgValValValHisProAspTyrArgGlnAspGluSerH GGGGAAACCATCCCGTCCGCCGCGTTGTTGTGCATCCAGACTACCGTCAGGACGAGTCCC isAsnPheSerGlyAspIleAlaLeuLeuGluLeuGlnHisSerIleProLeuGlyProA |||||||| |||||||||||||||||||||||||||||| |||||||||||| isAsnPheAspGlyAspIleAlaLeuLeuGluLeuGlnHisGlnValProLeuGlyProH ACAACTTTGATGGGGACATCGCACTCCTGGAGCTCCAGCACCAGGTCCCCCTGGGCCCCC snValLeuProValCysLeuProAspAsnGluThrLeuTyrArgSerGlyLeuLeuGlyT ||||||||||||||||||||||||||||||||| |||||||||||||||||||||| isValLeuProValCysLeuProAspAsnGluThrPheTyrArgSerGlyLeuLeuGlyT ATGTCCTCCCGGTCTGTCTGCCTGACAACGAGACTTTCTACCGCAGCGGCTTGTTGGGCT yrValSerGlyPheGlyMetGluMetGlyTrpLeuThrThrGluLeuLysTyrSerArgL ||||||||||||||||| ||| ||||||||||||||| |||||||||||||||| yrValSerGlyPheGlyValGluAlaGlyTrpLeuThrThrLysLeuLysTyrSerArgL ACGTCAGTGGGTTTGGGGTGGAGGCAGGCTGGTTAACGACCAAGCTGAAGTACTCCAGGC euProValAlaProArgGluAlaCysAsnAlaTrpLeuGlnLysArgGlnArgProGluV |||||||||||||||||||||||||| ||||||||| |||||| |||| euProValAlaProArgGluAlaCysGluAlaTrpLeuArgGlnArgGlnSerThrGluV TGCCCGTGGCTCCGAGAGAGGCCTGTGAGGCCTGGCTCCGACAGAGGCAGAGCACTGAGG alPheSerAspAsnMetPheCysValGlyAspGluThrGlnArgHisSerValCysGlnG |||||||| |||||||||||||||||| ||||||||| |||||| ||||||| alPheSerGlyAsnMetPheCysValGlyAsnGluThrGlnIleHisSerAlaCysGlnG TGTTTTCCGGCAACATGTTCTGCGTCGGAAATGAGACGCAGATACACAGTGCCTGCCAGG lyAspSerGlySerValTyrValValTrpAspAsnHisAlaHisHisTrpValAlaThrG |||||||||||||||||||||||||||||||| ||||||||| ||||||||||||| lyAspSerGlySerValTyrValValTrpAspAspHisAlaHisArgTrpValAlaThrG GGGACAGTGGTAGTGTCTATGTGGTATGGGATGACCATGCCCATCGCTGGGTGGCCACGG lyIleValSerTrpGlyIleGlyCysGlyGluGlyTyrAspPheTyrThrLysValLeuS ||||||||||||||||||||||||||||| |||||||||||||||||||||||||||| lyIleValSerTrpGlyIleGlyCysGlyLysGlyTyrAspPheTyrThrLysValLeuS GTATCGTATCTTGGGGCATTGGGTGTGGCAAGGGGTATGACTTCTACACCAAAGTTCTCA erTyrValAspTrpIleLysGlyValMetAsnGlyLysAsn ||||||||||||||||| |||||| ||| erTyrValAspTrpIleArgArgValMetAspGlyArgAsp GCTACGTGGACTGGATCCGGAGAGTGATGGATGGCAGGGAC // |