Basic information
Official Symbol TUBA1C
Descriptiontubulin, alpha 1c
Other AliasesTUBA6, bcm948
Other Descriptionalpha-tubulin 6; tubulin alpha-1C chain; tubulin alpha-6 chain; tubulin, alpha 6
Mutation typeInsert and frame-shift 32-33:A-K^AC
LocationScaffold145652_1:2631653 2578943 -

  ±  bp flank
WikiWikipedia 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 speciePep lengthPep align beginPep align endMutaion type and postion
Human5191519Insert 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


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