RGD:404995305 Rat Genome Database

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Variant: RGD:404995305 -  Homo sapiens

RGD ID: 404995305
ClinVar ID: CV3132657
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPOX  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 161,140,857
GRCh38 1 161,171,067
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1078t1:c.1325T>A
NM_001365399.1:c.1214T>A
NM_001350128.2:c.1226T>A
NM_000309.5:c.1325T>A
More... 		08/10/2023 nonsense pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:PPOX
Accession:XM_006711404
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 447
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV
SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLG
PEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEM
LPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVA
VVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQE
AAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHR*PLTLAGASYEGVAVNDCIESGRQAAVSVLGTEP
NS*

Gene Symbol:PPOX
Accession:NM_001350130
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALET
HLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQ
GAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLG
LKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHR*PLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_001365400
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 306
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLCTVLPSAALDLSPSLTLKVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALI
RQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLP
AEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQT
LEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHR*PLTLAGASYEGVAV
NDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_001365398
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 442
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL
DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS
LAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL
ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ
YQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQ
LGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHR*PLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:XM_024447864
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 359
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVASLAM
DSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETH
LTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQG
AHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGL
KEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHR*PLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:XM_017001566
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 306
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLCTVLPSAALDLSPSLTLKVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALI
RQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLP
AEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQT
LEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHR*PLTLAGASYEGVAV
NDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:XM_011509672
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 409
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV
SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLSPSLTLKVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQT
HRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLR
DSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAF
PEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESA
RQFLTAHR*PLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_001350128
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 409
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV
SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLSPSLTLKVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQT
HRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLR
DSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAF
PEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESA
RQFLTAHR*PLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:XM_011509671
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 480
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW
IRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPF
SKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLL
LGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHV
ISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPG
LRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHR*
PLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_001350131
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALET
HLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQ
GAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLG
LKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHR*PLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_001122764
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 442
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL
DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS
LAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL
ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ
YQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQ
LGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHR*PLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_001365399
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 405
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL
DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS
LAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL
ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ
YQGAHLPVQVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFL
TAHR*PLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_001365401
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALET
HLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQ
GAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLG
LKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHR*PLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_000309
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 442
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL
DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS
LAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL
ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ
YQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQ
LGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHR*PLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_001350129
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 306
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLCTVLPSAALDLSPSLTLKVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALI
RQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLP
AEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQT
LEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHR*PLTLAGASYEGVAV
NDCIESGRQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:XM_011509667
Location:INTRON

Gene Symbol:PPOX
Accession:XM_005245295
Location:INTRON

Gene Symbol:PPOX
Accession:XM_047423592
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509665
Location:INTRON

Gene Symbol:PPOX
Accession:XM_005245291
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509674
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509664
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509673
Location:INTRON

Gene Symbol:PPOX
Accession:XM_047423581
Location:INTRON

Gene Symbol:PPOX
Accession:XM_047423604
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509678
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509663
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509670
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509668
Location:INTRON

Gene Symbol:PPOX
Accession:XM_047423569
Location:INTRON

Gene Symbol:PPOX
Accession:XR_007061329
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:12859407   PMID:19656455   PMID:28492532   PMID:30385147  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003827596 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PPOX CLINVAR
OMIM 600923 CLINVAR