Basic information |
Official Symbol | TUBA1C |
Description | tubulin, alpha 1c |
Other Aliases | TUBA6, bcm948 |
Other Description | alpha-tubulin 6; tubulin alpha-1C chain; tubulin alpha-6 chain; tubulin, alpha 6 |
Mutation type | Insert and frame-shift 32-33:A-K^AC |
Location | Scaffold145652_1:2631653 2578943 - |
Wiki | Wikipedia GeneCard |
Sequence |
TUBA1C |
ATGACAGCCCAGTTTAATGGGGTGGAGGAGCATGGGAGGGATGTGTGCTT TGTGTGCTTGGAACTGGTTCCTTCAAATGGATCCTTTCTGAACTCACCGC AAAACATCTCTAACTGGATTCTTATTTACTTTACCAGAACACCTCAGGTC CCTGCGCTTTTTAACACATGCACATCCAGCAAAAGCAGAGGAGAACCTGG CTCTCTCTCAAAGCGTGAGTGCATCTCCATCCACGTCGGCCAGGCTGGTG TCCAGATCGGCAATGCCTGCTGGGAGCTCTACTGCCTGGAACACGGCATC CAGCCCGATGGCCAGATGCCAAGTGACAAGACCATTGGGGGAGGAGATGA CTCCTTCAACACCTTCTTCAGCGAGACGGGCGCCGGCAAGCATGTGCCCA GGGCCGTGTTTGTAGACCTGGAACCCACAGTCATCGATGAAGTTCGCACT GGCACCTACCGCCAGCTCTTCCACCCTGAGCAGCTCATCACAGGCAAGGA AGATGCTGCCAATAACTATGCCCGCGGGCACTACACCATCGGCAAGGAGA TCATCGACCTCGTCTTGGACAGAATTCGCAAGCTGGCTGACCAGTGCACA GGTCTGCAGGGCTTCTTGGTTTTCCACAGCTTTGGTGGGGGAACTGGTTC TGGCTTCCCCTCCCTGCTGATGGAGCGGCTCTCAGTGGATTATGGCAAGA AGTCCAAGCTGGAGTTCTCCATCTACCCAGCCCCCCAGGTCTCCACGGCT GTCGTTGAGCCCTACAACTCCATCCTCACCACCCACACCACCCTGGAGCA CTCTGACTGTGCCTTCATGGTAGACAACGAGGCCATCTATGACATCTGTC GTAGAAACCTCGACATTGAACGCCCAACCTACACTAACCTCAACCGCCTT ATTAGCCAGATTGTGTCCTCCATCACTGCTTCTCTTAGATTTGATGGAGC CCTGAATGTCGATCTGACAGAATTCCAGACCAACCTGGTGCCCTGTCCCC GCATCCACTTCTCTCTGGCCACATATGCCCCTGTCATCTCTGCTGAGAAA GCCTTCCATGAACAGCTTTCTGTAACAGAGATCAACAAGGCTTGCTTTGA GCCTGCCAACCAGATGGTGAAATGCGACCCTCGCCATGGTAAATACATGG CTTGTTGCCTGTTGTACCGTGGCGATGTGGTTCCCAAAGATGTCAATGCT GCCATTGCCACCATCAAGACCAAGCGCACCATCCAGTTTGTGGATTGGTG CCCCACTGGCTTTAAGGTTGGCATTAACTACCAGCCTCCCACTGTGGTGC CTGGGGGAGACCTGGCCAAGGTGCAGCGTGCTGTGTGCATGCTGAGCAAC ACCACAGCCATTGCTGAGGCCTGGGCTCGCCTGGACCACAAGTTTGACCT GATGTATGCCAAGCGTGCCTTCGTTCACTGGTACGTAGGTGAGGGGATGG AGGAAGGAGAGTTTTCTGAGGCCCGAGAGGACATGGCTGCCCTTGAGAAG GATTATGAGGAGGTTGGAGCAGACAGTGCTGAGGGGGAGGATGAGGGTGA AGAGTAT |
Alignment |
Align specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
Human | 519 | 1 | 519 | Insert and frame-shift 32-33:A-K^AC |
Instructions: *** -> premature termination codon; # -> frame shift Alignment: Human pep sequence ---> |||||||||||||||||||||| Treeshrew pep sequence ---> Treeshrew cds sequence ---> MetThrAlaTrpPheAsnGlyValGluGluLeuGlyArgAspGluCysPheValCysLeu ||||||||| |||||||||||||||||| ||||||||| ||||||||||||||| MetThrAlaGlnPheAsnGlyValGluGluHisGlyArgAspValCysPheValCysLeu ATGACAGCCCAGTTTAATGGGGTGGAGGAGCATGGGAGGGATGTGTGCTTTGTGTGCTTG GluLeuAspProSerAsnGlySerPheLeuAsnAla--LysLeuTyrIleSerAsnTrpI |||||| |||||||||||||||||||||||| ## ||||||||||||| GluLeuValProSerAsnGlySerPheLeuAsnSer##ProGlnAsnIleSerAsnTrpI GAACTGGTTCCTTCAAATGGATCCTTTCTGAACTCAACCCGCAAAACATCTCTAACTGGA leLeuIleTyrPheThrArgThrLeuGlnLeuProAlaProPheAsnThrCysThrSerS ||||||||||||||||||||||| ||| |||||| ||||||||||||||||||| leLeuIleTyrPheThrArgThrProGlnValProAlaLeuPheAsnThrCysThrSerS TTCTTATTTACTTTACCAGAACACCTCAGGTCCCTGCGCTTTTTAACACATGCACATCCA erLysSerArgGlyGluProGlyCysAspSerLys >>>> Target Intron 1 >> ||||||||||||||||||||||| |||||| 48446 bp erLysSerArgGlyGluProGlySerLeuSerLys++ GCAAAAGCAGAGGAGAACCTGGCTCTCTCTCAAAGgt >> ArgGluCysIleSerIleHisValGlyGlnAlaGlyValGlnIleGlyAsnAlaCy |||||||||||||||||||||||||||||||||||||||||||||||||||||||| ++ArgGluCysIleSerIleHisValGlyGlnAlaGlyValGlnIleGlyAsnAlaCy agCGTGAGTGCATCTCCATCCACGTCGGCCAGGCTGGTGTCCAGATCGGCAATGCCTG sTrpGluLeuTyrCysLeuGluHisGlyIleGlnProAspGlyGlnMetProSerAspLy |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| sTrpGluLeuTyrCysLeuGluHisGlyIleGlnProAspGlyGlnMetProSerAspLy CTGGGAGCTCTACTGCCTGGAACACGGCATCCAGCCCGATGGCCAGATGCCAAGTGACAA sThrIleGlyGlyGlyAspAspSerPheAsnThrPhePheSerGluThrGlyAlaGlyLy |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| sThrIleGlyGlyGlyAspAspSerPheAsnThrPhePheSerGluThrGlyAlaGlyLy GACCATTGGGGGAGGAGATGACTCCTTCAACACCTTCTTCAGCGAGACGGGCGCCGGCAA sHisValProArgAlaValPheValAspLeuGluProThrValIle{A} >>>> Targ ||||||||||||||||||||||||||||||||||||||||||||||{|} sHisValProArgAlaValPheValAspLeuGluProThrValIle{A}++ GCATGTGCCCAGGGCCGTGTTTGTAGACCTGGAACCCACAGTCATC{G}gt et Intron 2 >>>> {sp}GluValArgThrGlyThrTyrArgGlnLeuPheHisPr 184 bp {||}|||||||||||||||||||||||||||||||||||||| ++{sp}GluValArgThrGlyThrTyrArgGlnLeuPheHisPr ag{AT}GAAGTTCGCACTGGCACCTACCGCCAGCTCTTCCACCC oGluGlnLeuIleThrGlyLysGluAspAlaAlaAsnAsnTyrAlaArgGlyHisTyrTh |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| oGluGlnLeuIleThrGlyLysGluAspAlaAlaAsnAsnTyrAlaArgGlyHisTyrTh TGAGCAGCTCATCACAGGCAAGGAAGATGCTGCCAATAACTATGCCCGCGGGCACTACAC rIleGlyLysGluIleIleAspLeuValLeuAspArgIleArgLysLeu >>>> Targ ||||||||||||||||||||||||||||||||||||||||||||||||| rIleGlyLysGluIleIleAspLeuValLeuAspArgIleArgLysLeu++ CATCGGCAAGGAGATCATCGACCTCGTCTTGGACAGAATTCGCAAGCTGgt et Intron 3 >>>> AlaAspGlnCysThrGlyLeuGlnGlyPheLeuValPheHis 2522 bp |||||||||||||||||||||||||||||||||||||||||| ++AlaAspGlnCysThrGlyLeuGlnGlyPheLeuValPheHis agGCTGACCAGTGCACAGGTCTGCAGGGCTTCTTGGTTTTCCAC SerPheGlyGlyGlyThrGlySerGlyPheThrSerLeuLeuMetGluArgLeuSerVal |||||||||||||||||||||||||||||| ||||||||||||||||||||||||||| SerPheGlyGlyGlyThrGlySerGlyPheProSerLeuLeuMetGluArgLeuSerVal AGCTTTGGTGGGGGAACTGGTTCTGGCTTCCCCTCCCTGCTGATGGAGCGGCTCTCAGTG AspTyrGlyLysLysSerLysLeuGluPheSerIleTyrProAlaProGlnValSerThr |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| AspTyrGlyLysLysSerLysLeuGluPheSerIleTyrProAlaProGlnValSerThr GATTATGGCAAGAAGTCCAAGCTGGAGTTCTCCATCTACCCAGCCCCCCAGGTCTCCACG AlaValValGluProTyrAsnSerIleLeuThrThrHisThrThrLeuGluHisSerAsp |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| AlaValValGluProTyrAsnSerIleLeuThrThrHisThrThrLeuGluHisSerAsp GCTGTCGTTGAGCCCTACAACTCCATCCTCACCACCCACACCACCCTGGAGCACTCTGAC CysAlaPheMetValAspAsnGluAlaIleTyrAspIleCysArgArgAsnLeuAspIle |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| CysAlaPheMetValAspAsnGluAlaIleTyrAspIleCysArgArgAsnLeuAspIle TGTGCCTTCATGGTAGACAACGAGGCCATCTATGACATCTGTCGTAGAAACCTCGACATT GluArgProThrTyrThrAsnLeuAsnArgLeuIleSerGlnIleValSerSerIleThr |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GluArgProThrTyrThrAsnLeuAsnArgLeuIleSerGlnIleValSerSerIleThr GAACGCCCAACCTACACTAACCTCAACCGCCTTATTAGCCAGATTGTGTCCTCCATCACT AlaSerLeuArgPheAspGlyAlaLeuAsnValAspLeuThrGluPheGlnThrAsnLeu |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| AlaSerLeuArgPheAspGlyAlaLeuAsnValAspLeuThrGluPheGlnThrAsnLeu GCTTCTCTTAGATTTGATGGAGCCCTGAATGTCGATCTGACAGAATTCCAGACCAACCTG ValProTyrProArgIleHisPheProLeuAlaThrTyrAlaProValIleSerAlaGlu |||||| ||||||||||||||| ||||||||||||||||||||||||||||||||| ValProCysProArgIleHisPheSerLeuAlaThrTyrAlaProValIleSerAlaGlu GTGCCCTGTCCCCGCATCCACTTCTCTCTGGCCACATATGCCCCTGTCATCTCTGCTGAG LysAlaTyrHisGluGlnLeuThrValAlaGluIleThrAsnAlaCysPheGluProAla |||||| |||||||||||| ||| |||||| |||||||||||||||||| LysAlaPheHisGluGlnLeuSerValThrGluIleAsnLysAlaCysPheGluProAla AAAGCCTTCCATGAACAGCTTTCTGTAACAGAGATCAACAAGGCTTGCTTTGAGCCTGCC AsnGlnMetValLysCysAspProArgHisGlyLysTyrMetAlaCysCysLeuLeuTyr |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| AsnGlnMetValLysCysAspProArgHisGlyLysTyrMetAlaCysCysLeuLeuTyr AACCAGATGGTGAAATGCGACCCTCGCCATGGTAAATACATGGCTTGTTGCCTGTTGTAC ArgGlyAspValValProLysAspValAsnAlaAlaIleAlaThrIleLysThrLysArg |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| ArgGlyAspValValProLysAspValAsnAlaAlaIleAlaThrIleLysThrLysArg CGTGGCGATGTGGTTCCCAAAGATGTCAATGCTGCCATTGCCACCATCAAGACCAAGCGC ThrIleGlnPheValAspTrpCysProThrGlyPheLysValGlyIleAsnTyrGlnPro |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| ThrIleGlnPheValAspTrpCysProThrGlyPheLysValGlyIleAsnTyrGlnPro ACCATCCAGTTTGTGGATTGGTGCCCCACTGGCTTTAAGGTTGGCATTAACTACCAGCCT ProThrValValProGlyGlyAspLeuAlaLysValGlnArgAlaValCysMetLeuSer |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| ProThrValValProGlyGlyAspLeuAlaLysValGlnArgAlaValCysMetLeuSer CCCACTGTGGTGCCTGGGGGAGACCTGGCCAAGGTGCAGCGTGCTGTGTGCATGCTGAGC AsnThrThrAlaValAlaGluAlaTrpAlaArgLeuAspHisLysPheAspLeuMetTyr |||||||||||| ||||||||||||||||||||||||||||||||||||||||||||| AsnThrThrAlaIleAlaGluAlaTrpAlaArgLeuAspHisLysPheAspLeuMetTyr AACACCACAGCCATTGCTGAGGCCTGGGCTCGCCTGGACCACAAGTTTGACCTGATGTAT AlaLysArgAlaPheValHisTrpTyrValGlyGluGlyMetGluGluGlyGluPheSer |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| AlaLysArgAlaPheValHisTrpTyrValGlyGluGlyMetGluGluGlyGluPheSer GCCAAGCGTGCCTTCGTTCACTGGTACGTAGGTGAGGGGATGGAGGAAGGAGAGTTTTCT GluAlaArgGluAspMetAlaAlaLeuGluLysAspTyrGluGluValGlyAlaAspSer |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| GluAlaArgGluAspMetAlaAlaLeuGluLysAspTyrGluGluValGlyAlaAspSer GAGGCCCGAGAGGACATGGCTGCCCTTGAGAAGGATTATGAGGAGGTTGGAGCAGACAGT AlaAspGlyGluAspGluGlyGluGluTyr ||| |||||||||||||||||||||||| AlaGluGlyGluAspGluGlyGluGluTyr GCTGAGGGGGAGGATGAGGGTGAAGAGTAT // |