RGD:13535279 Rat Genome Database

Variant: RGD:13535279 - Homo sapiens

RGD ID:

13535279

RS ID:

rs543231659

ClinVar ID:

CV501315

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PDSS2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	6	107,475,889
GRCh38	6	107,154,685

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_020381.3:c.1134C>T NG_013033.1:g.309891C>T NC_000006.12:g.107154685G>A NC_000006.11:g.107475889G>A More...	09/04/2021	synonymous variant	benign\|likely benign	AllHighlyPenetrant; none provided

Disease Annotations Click to see Annotation Detail View

primary coenzyme Q10 deficiency 3 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	PDSS2
Accession:	XM_011535960
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	308

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSGIYSCQRSLAEITELIHIALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLA SALMDLVQGVYHENSTSKESYITDDIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGKHMAMSHKINSD VQPFIKEKTSDSMTFNLNSAPVVLHQEFLGRDLWIKQIGEAQEKGRLDYAKERGLAVTQTGDAFFMTQRMPLGFLITEAL DNGRDFHWKMAKRKIWCTNKSTPGPSNGSATNSMQNLLRERIKAGKGVTSAIDLCRYHGNKALEALESFPPSEARSALEN IVFAVTRFS*

Gene Symbol:	PDSS2
Accession:	NM_020381
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	378

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI AMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHIALL VHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKESYITD DIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGKHMAMSHKINSDVQPFIKEKTSDSMTFNLNSAPVVL HQEFLGRDLWIKQIGEAQEKGRLDYAKLRERIKAGKGVTSAIDLCRYHGNKALEALESFPPSEARSALENIVFAVTRFS*

Gene Symbol:	PDSS2
Accession:	XM_011535956
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	444

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI AMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHIALL VHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKESYITD DIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGKHMAMSHKINSDVQPFIKEKTSDSMTFNLNSAPVVL HQEFLGRDLWIKQIGEAQEKGRLDYAKERGLAVTQTGDAFFMTQRMPLGFLITEALDNGRDFHWKMAKRKIWCTNKSTPG PSNGSATNSMQNLLRERIKAGKGVTSAIDLCRYHGNKALEALESFPPSEARSALENIVFAVTRFS*

Gene Symbol:	PDSS2
Accession:	XM_011535961
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	276

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI AMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHIALL VHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKAQEKGR LDYAKLRERIKAGKGVTSAIDLCRYHGNKALEALESFPPSEARSALENIVFAVTRFS*

Gene Symbol:	PDSS2
Accession:	XM_047419097
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	333

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI AMQVRKLVGTQHPLLTTASQRSLAEITELIHIALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLAL LQNTKVVELLASALMDLVQGVYHENSTSKESYITDDIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGK HMAMSHKINSDVQPFIKEKTSDSMTFNLNSAPVVLHQEFLGRDLWIKQIGEAQEKGRLDYAKLRERIKAGKGVTSAIDLC RYHGNKALEALESFPPSEARSALENIVFAVTRFS*

Gene Symbol:	PDSS2
Accession:	XM_047419096
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	342

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI AMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHIALL VHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKAQEKGR LDYAKERGLAVTQTGDAFFMTQRMPLGFLITEALDNGRDFHWKMAKRKIWCTNKSTPGPSNGSATNSMQNLLRERIKAGK GVTSAIDLCRYHGNKALEALESFPPSEARSALENIVFAVTRFS*

Gene Symbol:	PDSS2
Accession:	XM_047419101
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	231

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI AMQVRKLVGTQHPLLTTASQRSLAEITELIHIALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLAL LQNTKVVELLASALMDLVQGVYHENSTSKAQEKGRLDYAKLRERIKAGKGVTSAIDLCRYHGNKALEALESFPPSEARSA LENIVFAVTRFS*

Gene Symbol:	PDSS2
Accession:	XM_047419100
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	264

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKESYITDDIGISTWKEQTFLSHGALLA KSCQAAMELAKHDAEVQNMAFQYGKHMAMSHKINSDVQPFIKEKTSDSMTFNLNSAPVVLHQEFLGRDLWIKQIGEAQEK GRLDYAKERGLAVTQTGDAFFMTQRMPLGFLITEALDNGRDFHWKMAKRKIWCTNKSTPGPSNGSATNSMQNLLRERIKA GKGVTSAIDLCRYHGNKALEALESFPPSEARSALENIVFAVTRFS*

Gene Symbol:	PDSS2
Accession:	XM_011535957
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	400

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI AMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHIALL VHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKESYITD DIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGKHMAMSHKAQEKGRLDYAKERGLAVTQTGDAFFMTQ RMPLGFLITEALDNGRDFHWKMAKRKIWCTNKSTPGPSNGSATNSMQNLLRERIKAGKGVTSAIDLCRYHGNKALEALES FPPSEARSALENIVFAVTRFS*

Gene Symbol:	PDSS2
Accession:	XM_011535959
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	334

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI AMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHIALL VHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKESYITD DIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGKHMAMSHKAQEKGRLDYAKLRERIKAGKGVTSAIDL CRYHGNKALEALESFPPSEARSALENIVFAVTRFS*

Gene Symbol:	PDSS2
Accession:	XM_047419098
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	292

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRDSGLVQAGWPRGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHIALLVHRGIV NLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKESYITDDIGIST WKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGKHMAMSHKINSDVQPFIKEKTSDSMTFNLNSAPVVLHQEFLG RDLWIKQIGEAQEKGRLDYAKLRERIKAGKGVTSAIDLCRYHGNKALEALESFPPSEARSALENIVFAVTRFS*

Gene Symbol:	PDSS2
Accession:	XM_011535958
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	399

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI AMQVRKLVGTQHPLLTTASQRSLAEITELIHIALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLAL LQNTKVVELLASALMDLVQGVYHENSTSKESYITDDIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGK HMAMSHKINSDVQPFIKEKTSDSMTFNLNSAPVVLHQEFLGRDLWIKQIGEAQEKGRLDYAKERGLAVTQTGDAFFMTQR MPLGFLITEALDNGRDFHWKMAKRKIWCTNKSTPGPSNGSATNSMQNLLRERIKAGKGVTSAIDLCRYHGNKALEALESF PPSEARSALENIVFAVTRFS*

Gene Symbol:	PDSS2
Accession:	XM_047419099
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	289

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNI AMQVRKLVGTQHPLLTTASQRSLAEITELIHIALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLAL LQNTKVVELLASALMDLVQGVYHENSTSKESYITDDIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGK HMAMSHKAQEKGRLDYAKLRERIKAGKGVTSAIDLCRYHGNKALEALESFPPSEARSALENIVFAVTRFS*

Gene Symbol:	PDSS2
Accession:	XM_011535963
Location:	INTRON

Gene Symbol:	PDSS2
Accession:	XM_017011082
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000602226	CLINVAR
	RCV002064302	CLINVAR
	RCV002498963	CLINVAR
dbSNP (RS)	rs543231659	CLINVAR
MedGen	C3553358	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	PDSS2	CLINVAR
OMIM	610564	CLINVAR
	614652	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:13535279 - Homo sapiens

Imported Disease Annotations - ClinVar