RGD:28882047 Rat Genome Database

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Variant: RGD:28882047 - Homo sapiens

RGD ID:

28882047

RS ID:

rs1659928956

ClinVar ID:

CV862580

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PPOX

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	161,138,309
GRCh38	1	161,168,519

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001365400.1:c.151C>T NM_001350131.2:c.73C>T NM_001365401.1:c.73C>T NG_012877.2:g.7129C>T More...	01/15/2018	missense variant	uncertain significance	Porphyria, South African type; PPOX deficiency; Protoporphyrinogen oxidase deficiency

Disease Annotations Click to see Annotation Detail View

variegate porphyria (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	PPOX
Accession:	XM_047423604
Location:	5UTRS;INTRON

Gene Symbol:	PPOX
Accession:	NM_001122764
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	187

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS LAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ YQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQ LGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:	PPOX
Accession:	XM_011509674
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	230

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW IRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLR PSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSI LLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVMLGGSWL QTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQAPSILHVPGC QLLRCRDRDHLGAASVSTHSQRTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:	PPOX
Accession:	XM_011509670
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	192

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW IRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLSPSLT LKVASLAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEM LPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVA VVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQE AAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQAPSILHVPGCQLLRCRDRDHLGAASVSTHSQ RTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:	PPOX
Accession:	XM_047423569
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW IRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPF SKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLL LGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHV ISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPG LRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSR KQAPSILHVPGCQLLRCRDRDHLGAVSEQPRSSAESRVGVASSTFSTFPLF*

Gene Symbol:	PPOX
Accession:	NM_001350128
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	154

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLSPSLTLKVASLAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQT HRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLR DSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAF PEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESA RQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:	PPOX
Accession:	XM_011509664
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW IRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPF SKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLL LGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHV ISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPG LRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSR KQAPSILHVPGCQLLRCRDRDHLGAASVSTHSQRTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATR AD*

Gene Symbol:	PPOX
Accession:	XM_017001566
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRLCTVLPSAALDLSPSLTLKVASLAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGAGRTPQPDSALI RQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLP AEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQT LEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAV NDCIESGRQAAVSVLGTEPNS*

Gene Symbol:	PPOX
Accession:	NM_001350131
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	25

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALET HLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQ GAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLG LKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:	PPOX
Accession:	NM_001365400
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRLCTVLPSAALDLSPSLTLKVASLAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGAGRTPQPDSALI RQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLP AEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQT LEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAV NDCIESGRQAAVSVLGTEPNS*

Gene Symbol:	PPOX
Accession:	XM_011509673
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	142

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW IRSVRGPNGAIFELGPRGIRPAGALGARTLLLVASLAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGA GRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISA IPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRV TVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQA PSILHVPGCQLLRCRDRDHLGAASVSTHSQRTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:	PPOX
Accession:	XM_011509678
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRLCTVLPSAALDLSPSLTLKVASLAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGAGRTPQPDSALI RQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLP AEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQT LEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQAPSILHVPGCQL LRCRDRDHLGAASVSTHSQRTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:	PPOX
Accession:	XM_011509671
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW IRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPF SKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLL LGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHV ISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPG LRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRL PLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:	PPOX
Accession:	XM_011509665
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	230

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW IRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLR PSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSI LLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSL EADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQD GSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEY PGRSRKQAPSILHVPGCQLLRCRDRDHLGAVSEQPRSSAESRVGVASSTFSTFPLF*

Gene Symbol:	PPOX
Accession:	NM_001350130
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	25

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALET HLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQ GAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLG LKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:	PPOX
Accession:	XM_006711404
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	192

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLG PEVASLAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEM LPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVA VVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQE AAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEP NS*

Gene Symbol:	PPOX
Accession:	NM_001365399
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	187

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS LAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ YQGAHLPVQVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFL TAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:	PPOX
Accession:	NM_000309
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	187

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS LAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ YQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQ LGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:	PPOX
Accession:	XM_024447864
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVASLAM DSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETH LTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQG AHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGL KEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:	PPOX
Accession:	XM_011509667
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	192

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLG PEVASLAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEM LPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVA VVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQE AAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQAPSILHVPGCQLLRCRDRDHLGAASVSTHSQ RTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:	PPOX
Accession:	XM_005245295
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRLCTVLPSAALDLSPSLTLKVASLAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGAGRTPQPDSALI RQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLP AEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQT LEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQAPSILHVPGCQL LRCRDRDHLGAASVSTHSQRTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:	PPOX
Accession:	XM_011509672
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	154

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLSPSLTLKVASLAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQT HRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLR DSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAF PEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESA RQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:	PPOX
Accession:	NM_001350129
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRLCTVLPSAALDLSPSLTLKVASLAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGAGRTPQPDSALI RQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLP AEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQT LEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAV NDCIESGRQAAVSVLGTEPNS*

Gene Symbol:	PPOX
Accession:	NM_001365401
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	25

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALET HLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQ GAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLG LKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

Gene Symbol:	PPOX
Accession:	XM_047423581
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	192

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLG PEVASLAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEM LPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVA VVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQE AAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQAPSILHVPGCQLLRCRDRDHLGAASVSTHSQ RTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:	PPOX
Accession:	XM_005245291
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	187

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS LAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ YQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQ LGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQAPSILHVPGCQLLRCRDRDHLGAASVSTHSQRTYLV FCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:	PPOX
Accession:	XM_011509663
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	230

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPPRGLALSVPIYSPYDQSSCGLPSRVVTLAGPGFRMGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGW IRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLR PSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSI LLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSL EADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQD GSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEY PGRSRKQAPSILHVPGCQLLRCRDRDHLGAASVSTHSQRTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPR GGATRAD*

Gene Symbol:	PPOX
Accession:	XM_047423592
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRLCTVLPSAALDLSPSLTLKVASLAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGAGRTPQPDSALI RQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLP AEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQT LEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQAPSILHVPGCQL LRCRDRDHLGAASVSTHSQRTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:	PPOX
Accession:	XM_011509668
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	192

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLACGEQV SELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLG PEVASLAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEM LPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVA VVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQE AAATQLGLKEMPSHCLVHLHKTKNQLKWRQSHDRTVEWPKEYPGRSRKQAPSILHVPGCQLLRCRDRDHLGAASVSTHSQ RTYLVFCCLSSPPPQQPGRHRCRHLGSGRCGGGVSRHGAGPRGGATRAD*

Gene Symbol:	PPOX
Accession:	NM_001365398
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	187

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGL DSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVAS LAMDSLCRGVFAGNSRELSIRSCFPSFFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQAL ETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQ YQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQ LGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS*

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001097058	CLINVAR
dbSNP (RS)	rs1659928956	CLINVAR
MedGen	C0162532	CLINVAR
NCBI Gene	PPOX	CLINVAR
OMIM	176200	CLINVAR
	600923	CLINVAR
SNOMED CT	58275005	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:28882047 - Homo sapiens

Imported Disease Annotations - ClinVar