Basic information |
Official Symbol | AMHR2 |
Description | anti-Mullerian hormone receptor, type II |
Other Aliases | AMHR, MISR2, MISRII, MRII |
Other Description | AMH 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 type | Insert and frame-shift 538-539:A-P^GC |
Location | Scaffold146740_1:401811 413074 + |
Wiki | Wikipedia 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 specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
Human | 573 | 1 | 556 | Insert 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 // |