RGD:405164842 Rat Genome Database

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Variant: RGD:405164842 -  Homo sapiens

RGD ID: 405164842
ClinVar ID: CV3160369
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPOX  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 161,140,922
GRCh38 1 161,171,132
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1078t1:c.1390C>T
NM_001365399.1:c.1279C>T
NM_001350128.2:c.1291C>T
NM_000309.5:c.1390C>T
More... 		12/30/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PPOX
Accession:XM_006711404
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 469
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV
SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLG
PEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEM
LPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVA
VVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQE
AAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGCQAAVSVLGTEP
NS*

Gene Symbol:PPOX
Accession:NM_001350131
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALET
HLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQ
GAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLG
LKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGCQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_001122764
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 464
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL
DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS
LAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL
ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ
YQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQ
LGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGCQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_001350129
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLCTVLPSAALDLSPSLTLKVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALI
RQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLP
AEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQT
LEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAV
NDCIESGCQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_001365401
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALET
HLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQ
GAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLG
LKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGCQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:XM_011509671
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 502
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW
IRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPF
SKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLL
LGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHV
ISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPG
LRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRL
PLTLAGASYEGVAVNDCIESGCQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_001365399
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 427
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL
DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS
LAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL
ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ
YQGAHLPVQVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFL
TAHRLPLTLAGASYEGVAVNDCIESGCQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_000309
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 464
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL
DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS
LAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL
ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ
YQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQ
LGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGCQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:XM_011509672
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 431
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV
SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLSPSLTLKVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQT
HRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLR
DSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAF
PEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESA
RQFLTAHRLPLTLAGASYEGVAVNDCIESGCQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_001365398
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 464
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL
DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS
LAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL
ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ
YQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQ
LGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGCQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:XM_024447864
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 381
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVASLAM
DSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETH
LTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQG
AHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGL
KEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGCQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_001350128
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 431
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV
SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLSPSLTLKVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQT
HRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLR
DSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAF
PEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESA
RQFLTAHRLPLTLAGASYEGVAVNDCIESGCQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_001365400
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLCTVLPSAALDLSPSLTLKVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALI
RQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLP
AEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQT
LEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAV
NDCIESGCQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:XM_017001566
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLCTVLPSAALDLSPSLTLKVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALI
RQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLP
AEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQT
LEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAV
NDCIESGCQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:NM_001350130
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALET
HLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQ
GAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLG
LKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGCQAAVSVLGTEPNS*

Gene Symbol:PPOX
Accession:XM_011509664
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509678
Location:INTRON

Gene Symbol:PPOX
Accession:XM_047423592
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509673
Location:INTRON

Gene Symbol:PPOX
Accession:XM_047423581
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509670
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509663
Location:INTRON

Gene Symbol:PPOX
Accession:XM_005245291
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509668
Location:INTRON

Gene Symbol:PPOX
Accession:XM_005245295
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509667
Location:INTRON

Gene Symbol:PPOX
Accession:XM_047423569
Location:INTRON

Gene Symbol:PPOX
Accession:XM_047423604
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509665
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509674
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003857248 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PPOX CLINVAR
OMIM 600923 CLINVAR