Basic information
Official Symbol AMHR2
Descriptionanti-Mullerian hormone receptor, type II
Other AliasesAMHR, MISR2, MISRII, MRII
Other DescriptionAMH type II receptor; MIS type II receptor; Mullerian inhibiting substance type II receptor; anti-Muellerian hormone type II receptor; anti-Muellerian hormone type-2 receptor
Mutation typeInsert and frame-shift 538-539:A-P^GC
LocationScaffold146740_1:401811 413074 +

  ±  bp flank
WikiWikipedia GeneCard
Sequence
AMHR2
ATGCTGGGGACTCTGGGGCTTTGGGCATTGCTTCCCGCAGCCGTGCAAGC
ACCCCCAAACAGGCGGATCTGCGTGTTCTTTGAGGCCCCAGGAGTGCAGG
GAAGCACAAGGACACTAGGAGAGCTGTTAGATGCAGGACCAGGGCCCCCC
AGGATTGTCCGCTGCCTCTACAGTCGCTGCTGCTTTGGGATCTGGAACCT
GACCCAAGACCGGGCGCAGGTGGAGATGCAAGGATGCCGGGACAGTGATG
GGCCAGGCTGTGAGTCCCGCCATTGTGACCCAAGCCCCCGAGCCCAGCCC
AGCCCTGCCTCCACTCTCTTCACCTGCTCCTGTGGCACTGACTTCTGCAA
TGCCAATTACAGCCATCTGACTTCTCTGGGGAAACCTGGGACTCCTGGCT
CCCAGGGTCCCCAGGCTGCCCCAGGTGAGCCCATGTGGATGCAGGTTCTG
TTGCTGCTGGGACTGCTCCTCTTCCTCCTGCTGCTGCTGGGCAGCATCAT
CCTGGCCCTGCTACAGAGAAAGGCGTATGGAGTGCGAGGTGGGCCAGAGC
CAGAGCCAGAGCCAGAGCCAGAGCCTGAGCCAGGCAGAGCCTGGAGTGAG
GCGCTGCCGGAGCTGCCTGAGCTGTGCTTCTCCCAGGTAATCCAGGAAGG
AGGTAACACAGTCGTGTGGGCTGGGAGGCTGCAAGGTGAGCTGGTAGCCA
TCAAGACCTTCCCACCGAGGGCTGTGGCCCAGTTCCAAGCTGAGAGAGCA
CTGTATGAGCTGCCAGGCCTACGGCATGACCATATTGTCCGCTTCATCGC
TGCCAGCTGGGGGGGTCCTGTTCCCTTGCCCTCCGGGCCCCTGTTGGTAC
TGGAACTGCACCCCAAGGGCTCCCTCTGCCACTTCTTGACCCAGTACACC
AGTGACTGGGCAAGATCCCTGCGGATGGCACTGTCCCTGGCCCAAGGTCT
GGCATTTCTCCACGAGGAGCGCTGGCAGGATGGTCAGTATAAACCAGGGA
TCGCGCACCGAGATCTGAGCAGCCAGAATGTGCTCATTCGGGAAGATGGC
TCATGTGTCATTGGAGACCTGGGCCTTGCCCTGGTGCTCCCCAGCCACAC
CCAGCCCCCTGCCTGGGCCCCTGCTGAGCCCCGAGGCCCAGCTGCCATCA
TGGAGGCTGGCACCCAGAGGTACATGGCCCCAGAGCTCTTGGACAAGACT
CTGGACCTACAGGACTGGGGCCTGGCCCTCCGGCGAGCTGATGTTTACTC
TCTGGCTCTACTCCTGTGGGAGATTCTGAGCCGCTGCCCAGACTTGAGGC
CTGACAGCAGACCACCACCCTTCCAACTGGCGTATGAGGCAGAACTGGGC
AGCACCCCCACCACCTGTGAGCTATGGGCCTTGGCAGTGGAAGAGAGGAG
GCGCCCCTACATCCCATCGGCCTGGGGCTGCTTTGCTACAGACCCTGGTG
GACTACGGGAGCTCCTCGAGGACTCTTGGGATGCAGACCCAGAAGCACGG
CTGACAGCCGAGTGTGTACACCAGCGCCTGGCTGCCCTGGCTCATCTGCA
GGGGACCCCTCCTTTCCCATGGGGCTGTCCACATGGCTGCCTGTCTCTCT
GCCCAGAATGTTCCTCAATTCCTCCTGTCATTCTCCCCCATAGGCCTCAG
CTGAGTACCTGCCACTTCAGTGTTCAG

Alignment
Align speciePep lengthPep align beginPep align endMutaion type and postion
Human5731556Insert and frame-shift 538-539:A-P^GC
 Instructions:
 *** -> premature termination codon;  # -> frame shift 

 Alignment:
 Human     pep sequence --->
 ||||||||||||||||||||||
 Treeshrew pep sequence --->
 Treeshrew cds sequence --->
  
 MetLeuGlySerLeuGlyLeuTrpAlaLeuLeuProThrAlaValGlu{A}  >>>> Ta
 |||||||||   ||||||||||||||||||||||||   ||||||   {|}         
 MetLeuGlyThrLeuGlyLeuTrpAlaLeuLeuProAlaAlaValGln{A}++       
 ATGCTGGGGACTCTGGGGCTTTGGGCATTGCTTCCCGCAGCCGTGCAA{G}gt       

 rget Intron 1 >>>>  {la}ProProAsnArgArgThrCysValPhePheGluAla
    299 bp           {||}|||||||||||||||   ||||||||||||||||||
                   ++{la}ProProAsnArgArgIleCysValPhePheGluAla
                   ag{CA}CCCCCAAACAGGCGGATCTGCGTGTTCTTTGAGGCC

 ProGlyValArgGlySerThrLysThrLeuGlyGluLeuLeuAspThrGlyThrGluLeu
 |||||||||   |||||||||   |||||||||||||||||||||   |||         
 ProGlyValGlnGlySerThrArgThrLeuGlyGluLeuLeuAspAlaGlyProGlyPro
 CCAGGAGTGCAGGGAAGCACAAGGACACTAGGAGAGCTGTTAGATGCAGGACCAGGGCCC

 ProArgAlaIleArgCysLeuTyrSerArgCysCysPheGlyIleTrpAsnLeuThrGln
 ||||||      ||||||||||||||||||||||||||||||||||||||||||||||||
 ProArgIleValArgCysLeuTyrSerArgCysCysPheGlyIleTrpAsnLeuThrGln
 CCCAGGATTGTCCGCTGCCTCTACAGTCGCTGCTGCTTTGGGATCTGGAACCTGACCCAA

 AspArgAlaGlnValGluMetGln{G}  >>>> Target Intron 2 >>>>  {ly}
 ||||||||||||||||||||||||{|}            225 bp           {||}
 AspArgAlaGlnValGluMetGln{G}++                         ++{ly}
 GACCGGGCGCAGGTGGAGATGCAA{G}gt                         ag{GA}

 CysArgAspSerAspGluProGlyCysGluSerLeuHisCysAspProSerProArgAla
 |||||||||||||||   |||||||||||||||   ||||||||||||||||||||||||
 CysArgAspSerAspGlyProGlyCysGluSerArgHisCysAspProSerProArgAla
 TGCCGGGACAGTGATGGGCCAGGCTGTGAGTCCCGCCATTGTGACCCAAGCCCCCGAGCC

 HisProSerProGlySerThrLeuPheThrCysSerCysGlyThrAspPheCysAsnAla
    |||||||||   |||||||||||||||||||||||||||||||||||||||||||||
 GlnProSerProAlaSerThrLeuPheThrCysSerCysGlyThrAspPheCysAsnAla
 CAGCCCAGCCCTGCCTCCACTCTCTTCACCTGCTCCTGTGGCACTGACTTCTGCAATGCC

 AsnTyrSerHisLeuProProProGlySerProGlyThrProGlySerGlnGlyProGln
 |||||||||||||||         |||   ||||||||||||||||||||||||||||||
 AsnTyrSerHisLeuThrSerLeuGlyLysProGlyThrProGlySerGlnGlyProGln
 AATTACAGCCATCTGACTTCTCTGGGGAAACCTGGGACTCCTGGCTCCCAGGGTCCCCAG

 AlaAlaPro{G}  >>>> Target Intron 3 >>>>  {ly}GluSerIleTrpMet
 |||||||||{|}            262 bp           {||}|||      ||||||
 AlaAlaPro{G}++                         ++{ly}GluProMetTrpMet
 GCTGCCCCA{G}gt                         ag{GT}GAGCCCATGTGGATG

 <->AlaLeuValLeuLeuGlyLeuPheLeuLeuLeuLeuLeuLeuLeuGlySerIleIle
       |||   ||||||||||||   |||   |||||||||||||||||||||||||||
 GlnValLeuLeuLeuLeuGlyLeuLeuLeuPheLeuLeuLeuLeuLeuGlySerIleIle
 CAGGTTCTGTTGCTGCTGGGACTGCTCCTCTTCCTCCTGCTGCTGCTGGGCAGCATCATC

 Leu{A}  >>>> Target Intron 4 >>>>  {la}LeuLeuGlnArgLysAsnTyr
 |||{|}            163 bp           {||}|||||||||||||||   |||
 Leu{A}++                         ++{la}LeuLeuGlnArgLysAlaTyr
 CTG{G}gt                         ag{CC}CTGCTACAGAGAAAGGCGTAT

 ArgValArgGly<-><-><-><->GluProValProGluProArgProAspSerGlyArg
    |||||||||            ||||||   |||||||||   |||      ||||||
 GlyValArgGlyGlyProGluProGluProGluProGluProGluProGluProGlyArg
 GGAGTGCGAGGTGGGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCTGAGCCAGGCAGA

 AspTrpSerValGluLeuGlnGluLeuProGluLeuCysPheSerGln  >>>> Targe
    ||||||      |||   |||||||||||||||||||||||||||            
 AlaTrpSerGluAlaLeuProGluLeuProGluLeuCysPheSerGln++          
 GCCTGGAGTGAGGCGCTGCCGGAGCTGCCTGAGCTGTGCTTCTCCCAGgt          

 t Intron 5 >>>>  ValIleArgGluGlyGlyHisAlaValValTrpAlaGlyGlnL
 133 bp           ||||||   |||||||||      |||||||||||||||   |
                ++ValIleGlnGluGlyGlyAsnThrValValTrpAlaGlyArgL
                agGTAATCCAGGAAGGAGGTAACACAGTCGTGTGGGCTGGGAGGC

 euGlnGlyLysLeuValAlaIleLysAlaPheProProArgSerValAlaGlnPheGlnA
 ||||||||   |||||||||||||||   ||||||||||||   ||||||||||||||||
 euGlnGlyGluLeuValAlaIleLysThrPheProProArgAlaValAlaGlnPheGlnA
 TGCAAGGTGAGCTGGTAGCCATCAAGACCTTCCCACCGAGGGCTGTGGCCCAGTTCCAAG

 laGluArgAlaLeuTyrGluLeuProGlyLeuGlnHisAspHisIleValArgPheIleT
 ||||||||||||||||||||||||||||||||   |||||||||||||||||||||||| 
 laGluArgAlaLeuTyrGluLeuProGlyLeuArgHisAspHisIleValArgPheIleA
 CTGAGAGAGCACTGTATGAGCTGCCAGGCCTACGGCATGACCATATTGTCCGCTTCATCG

 hrAlaSerArgGlyGlyProGlyArgLeuLeuSerGlyProLeuLeuValLeuGluLeuH
   ||||||   |||||||||      |||   ||||||||||||||||||||||||||||
 laAlaSerTrpGlyGlyProValProLeuProSerGlyProLeuLeuValLeuGluLeuH
 CTGCCAGCTGGGGGGGTCCTGTTCCCTTGCCCTCCGGGCCCCTGTTGGTACTGGAACTGC

 isProLys  >>>> Target Intron 6 >>>>  GlySerLeuCysHisTyrLeuTh
 ||||||||           6937 bp           |||||||||||||||   |||||
 isProLys++                         ++GlySerLeuCysHisPheLeuTh
 ACCCCAAGgt                         agGGCTCCCTCTGCCACTTCTTGAC

 rGlnTyrThrSerAspTrpGlySerSerLeuArgMetAlaLeuSerLeuAlaGlnGlyLe
 |||||||||||||||||||      |||||||||||||||||||||||||||||||||||
 rGlnTyrThrSerAspTrpAlaArgSerLeuArgMetAlaLeuSerLeuAlaGlnGlyLe
 CCAGTACACCAGTGACTGGGCAAGATCCCTGCGGATGGCACTGTCCCTGGCCCAAGGTCT

 uAlaPheLeuHisGluGluArgTrpGlnAsn{G}  >>>> Target Intron 7 >>>
 ||||||||||||||||||||||||||||   {|}            135 bp        
 uAlaPheLeuHisGluGluArgTrpGlnAsp{G}++                        
 GGCATTTCTCCACGAGGAGCGCTGGCAGGAT{G}gt                        

 >  {ly}GlnTyrLysProGlyIleAlaHisArgAspLeuSerSerGlnAsnValLeuIl
    {||}|||||||||||||||||||||||||||||||||||||||||||||||||||||
  ++{ly}GlnTyrLysProGlyIleAlaHisArgAspLeuSerSerGlnAsnValLeuIl
  ag{GT}CAGTATAAACCAGGGATCGCGCACCGAGATCTGAGCAGCCAGAATGTGCTCAT

 eArgGluAspGlySerCysAlaIleGlyAspLeuGlyLeuAlaLeuValLeuProGlyLe
 |||||||||||||||||||   |||||||||||||||||||||||||||||||||     
 eArgGluAspGlySerCysValIleGlyAspLeuGlyLeuAlaLeuValLeuProSerHi
 TCGGGAAGATGGCTCATGTGTCATTGGAGACCTGGGCCTTGCCCTGGTGCTCCCCAGCCA

 uThrGlnProProAlaTrpThrProThrGlnProGlnGlyProAlaAlaIleMetGlu  
  ||||||||||||||||||   |||      |||   |||||||||||||||||||||  
 sThrGlnProProAlaTrpAlaProAlaGluProArgGlyProAlaAlaIleMetGlu++
 CACCCAGCCCCCTGCCTGGGCCCCTGCTGAGCCCCGAGGCCCAGCTGCCATCATGGAGgt

 >>>> Target Intron 8 >>>>  AlaGlyThrGlnArgTyrMetAlaProGluLeu
           195 bp           |||||||||||||||||||||||||||||||||
                          ++AlaGlyThrGlnArgTyrMetAlaProGluLeu
                          agGCTGGCACCCAGAGGTACATGGCCCCAGAGCTC

 LeuAspLysThrLeuAspLeuGlnAspTrpGlyMetAlaLeuArgArgAlaAspIleTyr
 |||||||||||||||||||||||||||||||||   ||||||||||||||||||   |||
 LeuAspLysThrLeuAspLeuGlnAspTrpGlyLeuAlaLeuArgArgAlaAspValTyr
 TTGGACAAGACTCTGGACCTACAGGACTGGGGCCTGGCCCTCCGGCGAGCTGATGTTTAC

 SerLeuAlaLeuLeuLeuTrpGluIleLeuSerArgCysProAspLeuArgPro{A}  >
 ||||||||||||||||||||||||||||||||||||||||||||||||||||||{|}   
 SerLeuAlaLeuLeuLeuTrpGluIleLeuSerArgCysProAspLeuArgPro{A}++ 
 TCTCTGGCTCTACTCCTGTGGGAGATTCTGAGCCGCTGCCCAGACTTGAGGCCT{G}gt 

 >>> Target Intron 9 >>>>  {sp}SerSerProProProPheGlnLeuAlaTyr
          167 bp           {||}|||   ||||||||||||||||||||||||
                         ++{sp}SerArgProProProPheGlnLeuAlaTyr
                         ag{AC}AGCAGACCACCACCCTTCCAACTGGCGTAT

 GluAlaGluLeuGlyAsnThrProThrSerAspGluLeuTrpAlaLeuAlaValGlnGlu
 |||||||||||||||   |||||||||      |||||||||||||||||||||   |||
 GluAlaGluLeuGlySerThrProThrThrCysGluLeuTrpAlaLeuAlaValGluGlu
 GAGGCAGAACTGGGCAGCACCCCCACCACCTGTGAGCTATGGGCCTTGGCAGTGGAAGAG

 ArgArgArgProTyrIleProSerThrTrpArgCysPheAlaThr  >>>> Target I
 ||||||||||||||||||||||||   |||   ||||||||||||            106
 ArgArgArgProTyrIleProSerAlaTrpGlyCysPheAlaThr++             
 AGGAGGCGCCCCTACATCCCATCGGCCTGGGGCTGCTTTGCTACAgt             

 ntron 10 >>>>  AspProAspGlyLeuArgGluLeuLeuGluAspCysTrpAspAla
 9 bp           ||||||   ||||||||||||||||||||||||   |||||||||
              ++AspProGlyGlyLeuArgGluLeuLeuGluAspSerTrpAspAla
              agGACCCTGGTGGACTACGGGAGCTCCTCGAGGACTCTTGGGATGCA

 AspProGluAlaArgLeuThrAlaGluCysValGlnGlnArgLeuAlaAlaLeuAlaHis
 |||||||||||||||||||||||||||||||||   ||||||||||||||||||||||||
 AspProGluAlaArgLeuThrAlaGluCysValHisGlnArgLeuAlaAlaLeuAlaHis
 GACCCAGAAGCACGGCTGACAGCCGAGTGTGTACACCAGCGCCTGGCTGCCCTGGCTCAT

 ProGlnGluSerHisProPheProGluSerCysProArgGlyCysProProLeuCysPro
    |||         |||||||||      ||||||   ||||||      |||||||||
 LeuGlnGlyThrProProPheProTrpGlyCysProHisGlyCysLeuSerLeuCysPro
 CTGCAGGGGACCCCTCCTTTCCCATGGGGCTGTCCACATGGCTGCCTGTCTCTCTGCCCA

 GluAspCysThrSerIleProAla--ProThrIleLeuProCysArgProGlnArgSerA
 |||   |||   |||||||||   ##|||   |||||||||   |||||||||   ||| 
 Glu---CysSerSerIlePro---##ProValIleLeuProHisArgProGlnLeuSerT
 GAA---TGTTCCTCAATTCCT---GCCCTGTCATTCTCCCCCATAGGCCTCAGCTGAGTA

 laCysHisPheSerValGln
   ||||||||||||||||||
 hrCysHisPheSerValGln
 CCTGCCACTTCAGTGTTCAG


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