Basic information
Official Symbol MC5R
Descriptionmelanocortin 5 receptor
Other AliasesMC2
Other Descriptionmelanocortin receptor 5; melanocortin-5 receptor
Mutation typeInsert and frame-shift 313-314:R-G^G
LocationScaffold143584_1:8361443 8362415 +

  ±  bp flank
WikiWikipedia 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 speciePep lengthPep align beginPep align endMutaion type and postion
Human3251324Insert 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


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