Basic information |
Official Symbol | MC5R |
Description | melanocortin 5 receptor |
Other Aliases | MC2 |
Other Description | melanocortin receptor 5; melanocortin-5 receptor |
Mutation type | Insert and frame-shift 313-314:R-G^G |
Location | Scaffold143584_1:8361443 8362415 + |
Wiki | Wikipedia GeneCard |
Sequence |
MC5R |
ATGAATTCCTCCTTTCACCTGCATTTCTTGGATCTCAACCTGAATGCGAC AGAGGGCAACCTTTCAGGACCAGATGTCAAAAACAGGTCTTCACCATGCG AAGACATGGGCATCGCTGTGGAGGTGTTTCTGACTCTGGGTCTCATCAGC CTCTTGGAGAACATCTTGGTCATAGGCGCCATAGTGAAGAACAAGAACTT GCACTCCCCCATGTATTTCTTCGTGTGCAGCTTAGCAGTAGCTGACATGC TGGTGAGCATGTCCAATGCCTGGGAGACCATCACCATATACTTAATAAAT AACAAACACCTGGTGATGGCAGACACCTTCGTGCGTCACATTGACAACGT GTTTGACTCCATGATCTGCATTTCTGTGGTGGCCTCCATGTGCAGTTTGC TGGCCATTGCAGTGGATAGGTATGTCACCATCTGCTATGCGCTGCGCTAC CACCACATCATGACGACGAGGCGCTCTGGCCTAATTATTGCTTGCATCTG GACCTTTTGCACAGGCTGTGGCATCGTGTTCATCATTTACTATGAATCTA CTTATGTCATCATTTGCCTCATCTCCATGTTCTTCACCATGTTGTTCCTC ATGGTGTCTCTGTACATACACATGTTCCTCCTGGCACGGACCCATGTCAA GCGGATAGCAGCTCTGCCCGGATACAGCTCTGTGCGGCAAAGGACCAGCA TGAGGGGTGCCATCACCCTCACCATGCTGCTGGGTGCTTTCATCGTATGC TGGGCTCCCTTCTTCCTCCATCTCATTTTAATGATCTCTTGTCCTCAGAA CCTCTATTGTTCTTGCTTTATGTCTCACTTCAATATGTACCTCATACTTA TCATGTGTAATTCAGTCATTGACCCTCTGATATATGCCTTCCGTAGCCAA GAGATGCGGAAGACCTTTAAAGAGATTATTTGTTGCCATGGTTTCAGAAT AGCCTGTAGGTTTCCTGGCAGG |
Alignment |
Align specie | Pep length | Pep align begin | Pep align end | Mutaion type and postion |
Human | 325 | 1 | 324 | Insert and frame-shift 313-314:R-G^G |
Instructions: *** -> premature termination codon; # -> frame shift Alignment: Human pep sequence ---> |||||||||||||||||||||| Treeshrew pep sequence ---> Treeshrew cds sequence ---> MetAsnSerSerPheHisLeuHisPheLeuAspLeuAsnLeuAsnAlaThrGluGlyAsnLe |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| MetAsnSerSerPheHisLeuHisPheLeuAspLeuAsnLeuAsnAlaThrGluGlyAsnLe ATGAATTCCTCCTTTCACCTGCATTTCTTGGATCTCAACCTGAATGCGACAGAGGGCAACCT uSerGlyProAsnValLysAsnLysSerSerProCysGluAspMetGlyIleAlaValGluV |||||||||| ||||||||| ||||||||||||||||||||||||||||||||||||| uSerGlyProAspValLysAsnArgSerSerProCysGluAspMetGlyIleAlaValGluV TTCAGGACCAGATGTCAAAAACAGGTCTTCACCATGCGAAGACATGGGCATCGCTGTGGAGG alPheLeuThrLeuGlyValIleSerLeuLeuGluAsnIleLeuValIleGlyAlaIleVal ||||||||||||||||| |||||||||||||||||||||||||||||||||||||||||| alPheLeuThrLeuGlyLeuIleSerLeuLeuGluAsnIleLeuValIleGlyAlaIleVal TGTTTCTGACTCTGGGTCTCATCAGCCTCTTGGAGAACATCTTGGTCATAGGCGCCATAGTG LysAsnLysAsnLeuHisSerProMetTyrPhePheValCysSerLeuAlaValAlaAspMe |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| LysAsnLysAsnLeuHisSerProMetTyrPhePheValCysSerLeuAlaValAlaAspMe AAGAACAAGAACTTGCACTCCCCCATGTATTTCTTCGTGTGCAGCTTAGCAGTAGCTGACAT tLeuValSerMetSerSerAlaTrpGluThrIleThrIleTyrLeuLeuAsnAsnLysHisL |||||||||||||||| ||||||||||||||||||||||||||| ||||||||||||| tLeuValSerMetSerAsnAlaTrpGluThrIleThrIleTyrLeuIleAsnAsnLysHisL GCTGGTGAGCATGTCCAATGCCTGGGAGACCATCACCATATACTTAATAAATAACAAACACC euValIleAlaAspAlaPheValArgHisIleAspAsnValPheAspSerMetIleCysIle ||||| |||||| ||||||||||||||||||||||||||||||||||||||||||||| euValMetAlaAspThrPheValArgHisIleAspAsnValPheAspSerMetIleCysIle TGGTGATGGCAGACACCTTCGTGCGTCACATTGACAACGTGTTTGACTCCATGATCTGCATT SerValValAlaSerMetCysSerLeuLeuAlaIleAlaValAspArgTyrValThrIlePh |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| SerValValAlaSerMetCysSerLeuLeuAlaIleAlaValAspArgTyrValThrIleCy TCTGTGGTGGCCTCCATGTGCAGTTTGCTGGCCATTGCAGTGGATAGGTATGTCACCATCTG eTyrAlaLeuArgTyrHisHisIleMetThrAlaArgArgSerGlyAlaIleIleAlaGlyI |||||||||||||||||||||||||||||| |||||||||||| ||||||||| | sTyrAlaLeuArgTyrHisHisIleMetThrThrArgArgSerGlyLeuIleIleAlaCysI CTATGCGCTGCGCTACCACCACATCATGACGACGAGGCGCTCTGGCCTAATTATTGCTTGCA leTrpAlaPheCysThrGlyCysGlyIleValPheIleLeuTyrSerGluSerThrTyrVal ||||| |||||||||||||||||||||||||||||| ||| ||||||||||||||| leTrpThrPheCysThrGlyCysGlyIleValPheIleIleTyrTyrGluSerThrTyrVal TCTGGACCTTTTGCACAGGCTGTGGCATCGTGTTCATCATTTACTATGAATCTACTTATGTC IleLeuCysLeuIleSerMetPhePheAlaMetLeuPheLeuLeuValSerLeuTyrIleHi ||| ||||||||||||||||||||| |||||||||||| ||||||||||||||||| IleIleCysLeuIleSerMetPhePheThrMetLeuPheLeuMetValSerLeuTyrIleHi ATCATTTGCCTCATCTCCATGTTCTTCACCATGTTGTTCCTCATGGTGTCTCTGTACATACA sMetPheLeuLeuAlaArgThrHisValLysArgIleAlaAlaLeuProGlyAlaSerSerA |||||||||||||||||||||||||||||||||||||||||||||||||||| |||||| sMetPheLeuLeuAlaArgThrHisValLysArgIleAlaAlaLeuProGlyTyrSerSerV CATGTTCCTCCTGGCACGGACCCATGTCAAGCGGATAGCAGCTCTGCCCGGATACAGCTCTG laArgGlnArgThrSerMetGlnGlyAlaValThrValThrMetLeuLeuGlyValPheThr |||||||||||||||||| |||||| ||| ||||||||||||||| ||| alArgGlnArgThrSerMetArgGlyAlaIleThrLeuThrMetLeuLeuGlyAlaPheIle TGCGGCAAAGGACCAGCATGAGGGGTGCCATCACCCTCACCATGCTGCTGGGTGCTTTCATC ValCysTrpAlaProPhePheLeuHisLeuThrLeuMetLeuSerCysProGlnAsnLeuTy |||||||||||||||||||||||||||||| |||||| |||||||||||||||||||| ValCysTrpAlaProPhePheLeuHisLeuIleLeuMetIleSerCysProGlnAsnLeuTy GTATGCTGGGCTCCCTTCTTCCTCCATCTCATTTTAATGATCTCTTGTCCTCAGAACCTCTA rCysSerArgPheMetSerHisPheAsnMetTyrLeuIleLeuIleMetCysAsnSerValM ||||||| ||||||||||||||||||||||||||||||||||||||||||||||||||| rCysSerCysPheMetSerHisPheAsnMetTyrLeuIleLeuIleMetCysAsnSerValI TTGTTCTTGCTTTATGTCTCACTTCAATATGTACCTCATACTTATCATGTGTAATTCAGTCA etAspProLeuIleTyrAlaPheArgSerGlnGluMetArgLysThrPheLysGluIleIle |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||| leAspProLeuIleTyrAlaPheArgSerGlnGluMetArgLysThrPheLysGluIleIle TTGACCCTCTGATATATGCCTTCCGTAGCCAAGAGATGCGGAAGACCTTTAAAGAGATTATT CysCysArg-GlyPheArgIleAlaCysSerPheProArgArg |||||| #|||||||||||||||||| |||||| ||| CysCysHis#GlyPheArgIleAlaCysArgPheProGlyArg TGTTGCCATGGGTTTCAGAATAGCCTGTAGGTTTCCTGGCAGG // |