RGD:10058884 Rat Genome Database

Variant: RGD:10058884 - Homo sapiens

RGD ID:

10058884

RS ID:

rs796052019

ClinVar ID:

CV200253

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PCCA

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	13	100,809,551
GRCh38	13	100,157,297

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	Age of Onset	Prevalence	Trait Synonyms
NG_008768.1:g.73215G>A NC_000013.11:g.100157297G>A NC_000013.10:g.100809551G>A NP_000273.2:p.Gly142Asp More...	03/14/2024	5 prime utr variant\|missense variant	pathogenic\|likely pathogenic	infancy	>1 / 1000	Glycinemia, ketotic; Hyperglycinemia with ketoacidosis and leukopenia; Ketotic hyperglycinemia; none provided

Disease Annotations Click to see Annotation Detail View

pontocerebellar hypoplasia type 2D (IAGP)

propionic acidemia (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Propionic acidemia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	PCCA
Accession:	NM_001352610
Location:	5UTRS;EXON

Gene Symbol:	PCCA
Accession:	NM_001352611
Location:	5UTRS;EXON

Gene Symbol:	PCCA
Accession:	NM_001352612
Location:	5UTRS;EXON

Gene Symbol:	PCCA
Accession:	NM_001127692
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMA DEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKK AEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDN PRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFY FLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHL PGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSD VYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVD GSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVYKVNILTRLAAELNKFMLEKVTEDTSSVLRSPM PGVVVAVSVKPGDAVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE*

Gene Symbol:	PCCA
Accession:	XM_017020615
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	142

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIR TCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAED VVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRD GFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQA VALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRV YAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTH NIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWE LSVKLHDKVHTVVASNNGSVFSNIFGRSHKKLGPMVACELGSWRADSITMEGSVRWSSVEIMEP*

Gene Symbol:	PCCA
Accession:	XM_017020613
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	142

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIR TCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAED VVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRD GFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQA VALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRV YAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTH NIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWE LSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQEVLQVMCRYNSHAVGPVLSHSCMAR PVSFSRSRWKHEHSVSWYSGSRRSRNLCD*

Gene Symbol:	PCCA
Accession:	XM_017020605
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	142

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIR TCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAED VVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRD GFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQA VALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRV YAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTH NIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWE LSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQEVLQVMCRYNSHAVGPVLSHSCMAR PVSFSRSRWKHEHSVSWYSGARGSGKVQHCQLSTKSVSVIKYPMVCGSGTEMGLFPKALSMATSVYFCILSCIASVAYIL VSTVYGESLLIEIETAIMKPAIIN*

Gene Symbol:	PCCA
Accession:	XM_017020609
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVG PAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIP GFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQ VLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEMNTR LQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDS GIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFK GHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVT STWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVYKVNILTRLAAELNKFMLEKVTEDTSSVLRSPMPGVVVAV SVKPGDAVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE*

Gene Symbol:	PCCA
Accession:	XM_017020616
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	142

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIR TCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAED VVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRD GFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQA VALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRV YAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTH NIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSSCAV*

Gene Symbol:	PCCA
Accession:	NM_001352605
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	142

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIR TCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAED VVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRD GFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQA VALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRV YAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTH NIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWE LSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQYKVNILTRLAAELNKFMLEKVTEDT SSVLRSPMPGVVVAVSVKPGDAVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE*

Gene Symbol:	PCCA
Accession:	XM_047430373
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVG PAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIP GFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQ VLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEMNTR LQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDS GIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFK GHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVT STWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGE GDLLVELE*

Gene Symbol:	PCCA
Accession:	XM_047430374
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	142

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIR TCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAED VVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRD GFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQA VALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRV YAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTH NIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWE LSVKLHDKVHTVVASNNGSVFSNIFGRSHKKLGPMVACELGSWRADSITKTSAVTWPSGEAIRKAAGSLNGECWSHRCGS *

Gene Symbol:	PCCA
Accession:	XM_047430370
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	87

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLCRDTHCIPPFSPSNYPNFLGSLLRTGHECSLLKYWATLATCNKVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTR AQAVHPDYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYP VMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRR NQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIR VAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITY GSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVA FQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQ EVLQVMCRYNSHAVGPVLSHSCMARPVSFSRSRWKHEHSVSWYSGARGSGKVQHCQLSTKSVSVIKYPMVCGSGTEMGLF PKALSMATSVYFCILSCIASVAYILVSTVYGESLLIEIETAIMKPAIIN*

Gene Symbol:	PCCA
Accession:	XM_017020612
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	142

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIR TCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAED VVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRD GFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQA VALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRV YAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTH NIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWE LSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQEVLQVMCRYNSHAVGPVLSHSCMAR PVSFSRSRWKHEHSVSWYSVQGEYLNQTCRRIEQIYAGKSD*

Gene Symbol:	PCCA
Accession:	XM_017020606
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMA DEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKK AEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDN PRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFY FLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHL PGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSD VYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVD GSKLNVTSTWNLASPLLSVSVDGTQRTVQEVLQVMCRYNSHAVGPVLSHSCMARPVSFSRSRWKHEHSVSWYSGARGSGK VQHCQLSTKSVSVIKYPMVCGSGTEMGLFPKALSMATSVYFCILSCIASVAYILVSTVYGESLLIEIETAIMKPAIIN*

Gene Symbol:	PCCA
Accession:	NM_001352608
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMA DEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKK AEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDN PRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFY FLEMNTRLQDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYV IRGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKP DIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVY KVNILTRLAAELNKFMLEKVTEDTSSVLRSPMPGVVVAVSVKPGDAVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQA GDTVGEGDLLVELE*

Gene Symbol:	PCCA
Accession:	NM_001352609
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	142

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIR TCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAED VVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRD GFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQA VALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRV YAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTH NIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWE LSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVPWRKLLD *

Gene Symbol:	PCCA
Accession:	XM_011521093
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	142

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIR TCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAED VVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRD GFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQA VALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRV YAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTH NIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWE LSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVEHGAQGK FSIVSCQQNHPGESFWIDCEKLGRRCCGLVAGSAGGLGLKALGLYKLFWICNTFILNLQ*

Gene Symbol:	PCCA
Accession:	XM_017020607
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVG PAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIP GFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQ VLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEMNTR LQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDS GIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFK GHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVT STWNLASPLLSVSVDGTQRTVQEVLQVMCRYNSHAVGPVLSHSCMARPVSFSRSRWKHEHSVSWYSGARGSGKVQHCQLS TKSVSVIKYPMVCGSGTEMGLFPKALSMATSVYFCILSCIASVAYILVSTVYGESLLIEIETAIMKPAIIN*

Gene Symbol:	PCCA
Accession:	NM_001178004
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	142

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIR TCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAED VVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRD GFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQA VALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRV YAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTH NIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWE LSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVVAEGQEI CVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE*

Gene Symbol:	PCCA
Accession:	XM_017020611
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	142

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIR TCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAED VVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRD GFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQA VALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRV YAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTH NIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWE LSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQEVLQVMCRYNSHAVGPVLSHSCMAR PVSFSRSRWKHEHSVSWYSGARGSGKVQHCQLSTKSPWRKLLD*

Gene Symbol:	PCCA
Accession:	XM_047430371
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMA DEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKK AEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDN PRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFY FLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHL PGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSD VYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVD GSKLNVTSTWNLASPLLSVSVDGTQRTVQYKVNILTRLAAELNKFMLEKVTEDTSSVLRSPMPGVVVAVSVKPGDAVAEG QEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE*

Gene Symbol:	PCCA
Accession:	NM_000282
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	142

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIR TCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAED VVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRD GFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQA VALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRV YAEDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTH NIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWE LSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVYKVNILT RLAAELNKFMLEKVTEDTSSVLRSPMPGVVVAVSVKPGDAVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGE GDLLVELE*

Gene Symbol:	PCCA
Accession:	NM_001352607
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMA DEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKK AEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDN PRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFY FLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHL PGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSD VYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVD GSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQ AGDTVGEGDLLVELE*

Gene Symbol:	PCCA
Accession:	XM_047430372
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMA DEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKK AEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDN PRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFY FLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHL PGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSD VYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVD GSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVEHGAQGKFSIVSCQQNHPGESFWIDCEKLGRRC CGLVAGSAGGLGLKALGLYKLFWICNTFILNLQ*

Gene Symbol:	PCCA
Accession:	XM_047430377
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	142

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIR TCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAED VVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRD GFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQA VALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVLHIILHYFER*

Gene Symbol:	PCCA
Accession:	NM_001352606
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	142

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNEKTFDKILVANRGEIACRVIR TCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAED VVFIGPDTHAIQAMGDKIESKLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRD GFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQA VALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQDPYKSFGLPSIGRLSQYQEPLHLPGVRVDSGIQPGSDISIYYDPM ISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAI ASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLASPLLSVSVD GTQRTVQCLSREAGGNMSIQFLGTVYKVNILTRLAAELNKFMLEKVTEDTSSVLRSPMPGVVVAVSVKPGDAVAEGQEIC VIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGEGDLLVELE*

Gene Symbol:	PCCA
Accession:	XM_047430375
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMA DEAVCVGPAPTSKSYLNMDAIMEAIKKTRAQAVHPDYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLAKK AEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRDGFRLSSQEAASSFGDDRLLIEKFIDN PRHIEIQVLGDKHGNALWLNERECSIQRRNQKVVEEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFY FLEMNTRLQVEHPVTECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQYQEPLHL PGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTHNIALLREVIINSRFVKGDISTKFLSD VYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRAQHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVD GSKLNVTSTWNLASPLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVPWRKLLD*

Gene Symbol:	PCCA
Accession:	NR_148028
Location:	EXON;NON-CODING

Gene Symbol:	PCCA
Accession:	NR_148031
Location:	EXON;NON-CODING

Gene Symbol:	PCCA
Accession:	XR_007063681
Location:	EXON;NON-CODING

Gene Symbol:	PCCA
Accession:	NR_148029
Location:	EXON;NON-CODING

Gene Symbol:	PCCA
Accession:	NR_148027
Location:	EXON;NON-CODING

Gene Symbol:	PCCA
Accession:	NR_148030
Location:	EXON;NON-CODING

Gene Symbol:	PCCA
Accession:	XM_047430376
Location:	INTRON

Gene Symbol:	PCCA
Accession:	XM_047430378
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:22156789	PMID:25741868	PMID:25741916	PMID:28492532	PMID:30274917	PMID:30705822

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000186085	CLINVAR
	RCV000414788	CLINVAR
	RCV003984829	CLINVAR
dbSNP (RS)	rs796052019	CLINVAR
MedGen	C0268579	CLINVAR
	C3151140	CLINVAR
	C3661900	CLINVAR
NCBI Gene	PCCA	CLINVAR
OMIM	232000	CLINVAR
	606054	CLINVAR
	613811	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)

Variant: RGD:10058884 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:10058884 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar