Basic information
Official Symbol PGPEP1L
Descriptionpyroglutamyl-peptidase I-like
Other AliasesNA
Other Descriptionpyroglutamyl-peptidase 1-like protein
Mutation typeInsert and frame-shift 174-175:V-G^A
LocationScaffold138490_1:530759 527665 -

  ±  bp flank
WikiWikipedia GeneCard
Sequence
PGPEP1L
CTGCAGGAGCTCTCCCAGCTGGGCCTGGGGAACGACGTGGAGGTGGAACT
GCGGACCCTTCAGTTGCCTGTGGATTACAGGGAGGCTGAGAAGAGGGTTA
CCAGAATCTGGAAAGATCTACGACCTCACCTCGTGGTGCACGTGGGTGTA
GACGCCTCCGCCAAGGTCATCTTTCTGGAACAGTGCGGCAAGAACCGAGG
CTACGCGGACGCCGACATCCGGGGTTTCCGGCCAGAGGGCGGTGTGTGCA
TCCCTGGTGGCCCGGAAGTGATCGAGTCCAGGGTCAGCATGAAGGCAATC
TGCAAGCGTGTTGGAGTGCAAGAGGTCGAAGTGGCTTTTTCCCGCGACGC
CGGCAGATACGTTTGCGATTACACCTATTACCTGTCTCTACGTCGTGGAC
ACGGCTGTGCAGCCCTCATCCATGTCCCTCCGCTGTCGCAAGGGCTCCCG
GCCAGCCTGTTGGGAAAAGCCTTGCAAGTCATCATCCGGGAAATGCTGGA
AGAGACCGGCAAGCCCAGGTTCAAAGCCTGGTTCACAGAAAACTCAACCC
CAGCGATTCTGCCGAAGGGA

Alignment
Align speciePep lengthPep align beginPep align endMutaion type and postion
Human1966195Insert and frame-shift 174-175:V-G^A
 Instructions:
 *** -> premature termination codon;  # -> frame shift 

 Alignment:
 Human     pep sequence --->
 ||||||||||||||||||||||
 Treeshrew pep sequence --->
 Treeshrew cds sequence --->

LeuValGluLeuSerLysLeuGlyLeuGlyAsnGluThrValValGlnLeuArgThrLeuGl
|||   |||||||||   |||||||||||||||         |||   ||||||||||||  
LeuGlnGluLeuSerGlnLeuGlyLeuGlyAsnAspValGluValGluLeuArgThrLeuGl
CTGCAGGAGCTCTCCCAGCTGGGCCTGGGGAACGACGTGGAGGTGGAACTGCGGACCCTTCA

uLeuProValAspTyrArgGluAlaLysArgArgValThrGlyIleTrpGluAspHisGlnP
 ||||||||||||||||||||||||      |||||||||   ||||||   |||      |
nLeuProValAspTyrArgGluAlaGluLysArgValThrArgIleTrpLysAspLeuArgP
GTTGCCTGTGGATTACAGGGAGGCTGAGAAGAGGGTTACCAGAATCTGGAAAGATCTACGAC

roGln  >>>> Target Intron 1 >>>>  LeuValValHisValGlyMetAspThrA
||              1331 bp           ||||||||||||||||||   |||    
roHis++                         ++LeuValValHisValGlyValAspAlaS
CTCACgt                         agCTCGTGGTGCACGTGGGTGTAGACGCCT

laAlaLysAlaIleIleLeuGluGlnSerGlyLysAsnGlnGlyTyrArgAspAlaAspIle
  ||||||   |||   |||||||||   |||||||||   ||||||   ||||||||||||
erAlaLysValIlePheLeuGluGlnCysGlyLysAsnArgGlyTyrAlaAspAlaAspIle
CCGCCAAGGTCATCTTTCTGGAACAGTGCGGCAAGAACCGAGGCTACGCGGACGCCGACATC

ArgSerPheTrpProGluGlyGlyValCysLeuProGlySerProAspValLeuGluSerGl
|||   |||   ||||||||||||||||||   ||||||   |||   |||   ||||||  
ArgGlyPheArgProGluGlyGlyValCysIleProGlyGlyProGluValIleGluSerAr
CGGGGTTTCCGGCCAGAGGGCGGTGTGTGCATCCCTGGTGGCCCGGAAGTGATCGAGTCCAG

yValCysMetLysAlaValCysLysArgValAlaValGluGlyValAspValIlePheSerA
 |||   |||||||||   ||||||||||||   |||      |||   |||   |||||||
gValSerMetLysAlaIleCysLysArgValGlyValGlnGluValGluValAlaPheSerA
GGTCAGCATGAAGGCAATCTGCAAGCGTGTTGGAGTGCAAGAGGTCGAAGTGGCTTTTTCCC

rgAspAlaGly{Ar}  >>>> Target Intron 2 >>>>  {g}TyrValCysAspTyr
|||||||||||{||}           1193 bp           {|}|||||||||||||||
rgAspAlaGly{Ar}++                         ++{g}TyrValCysAspTyr
GCGACGCCGGC{AG}gt                         ag{A}TACGTTTGCGATTAC

ThrTyrTyrLeuSerLeuHisHisGlyLysGlyCysAlaAlaLeuIleHisValProProLe
||||||||||||||||||      |||   ||||||||||||||||||||||||||||||||
ThrTyrTyrLeuSerLeuArgArgGlyHisGlyCysAlaAlaLeuIleHisValProProLe
ACCTATTACCTGTCTCTACGTCGTGGACACGGCTGTGCAGCCCTCATCCATGTCCCTCCGCT

uSerArgGlyLeuProAlaSerLeuLeuGlyArgAlaLeuArgValIleIleGlnGluMetL
||||   ||||||||||||||||||||||||   ||||||   |||||||||   |||||||
uSerGlnGlyLeuProAlaSerLeuLeuGlyLysAlaLeuGlnValIleIleArgGluMetL
GTCGCAAGGGCTCCCGGCCAGCCTGTTGGGAAAAGCCTTGCAAGTCATCATCCGGGAAATGC

euGluGluVal-GlyLysProLysHisArgAlaGlnPheGluGluAsnSerThrMetValLe
||||||||   #|||||||||         |||   |||   ||||||||||||        
euGluGluThr#GlyLysProArgPheLysAlaTrpPheThrGluAsnSerThrProAlaIl
TGGAAGAGACCAGGCAAGCCCAGGTTCAAAGCCTGGTTCACAGAAAACTCAACCCCAGCGAT

uProAlaLysGly
       ||||||
eLeuProLysGly

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