RGD:8555485 Rat Genome Database

Variant: RGD:8555485 - Homo sapiens

RGD ID:

8555485

RS ID:

rs267606773

ClinVar ID:

CV15224

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DPYS

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	105,405,152
GRCh38	8	104,392,924

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	Prevalence	Trait Synonyms
NG_008840.1:g.79126G>A NC_000008.11:g.104392924C>T NC_000008.10:g.105405152C>T NP_001376.1:p.Gly435Arg More...	05/18/2015	missense\|missense variant	pathogenic	<1 / 1 000 000	DIHYDROPYRIMIDINURIA; DPH DEFICIENCY; DPYS DEFICIENCY

Disease Annotations Click to see Annotation Detail View

dihydropyrimidinase deficiency (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	DPYS
Accession:	XM_006716518
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	418

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPSRLLIRGGRVVNDDFSEVADVLVEDGVVRALGHDLLPPGGAPAGLRVLDAAGKLVLPGGIDTHTHMQFPFMGSRSI DDFHQGTKVKEEMKILVQDKGVNSFKMFMAYKDLYMVTDLELYEAFSRCKEIGAIAQVHAENGDLIAEGAKKMLALGITG PEGHELCRPEAVEAEATLRAITIASAVNCPLYIVHVMSKSAAKVIADARRDGKVVYGEPIAASLGTDGTHYWNKEWHHAA HHVMGPPLRPDPSTPDFLMNLLANDDLTTTGTDNCTFNTCQKALGKDDFTKIPNGVNGVEDRMSVIWEKGVHSGKMDENR FVAVTSTNAAKIFNLYPRKGRIAVGSDADIVIWDPKGTRGCRSCVAFSDNGSVYKTNMNLPLQCLANARVHMEERTISAK THHQAVNFNIFEGMVCHRVPLVTISRGKVVYEAGVFSVTAGDGKFIPRKPFAEYIYKRIKQRDRTCTPTPVERAPYKGEV ATLKSRVTKEDATAGTRKQAHP*

Gene Symbol:	DPYS
Accession:	XM_011516903
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	471

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPSRLLIRGGRVVNDDFSEVADVLVEDGVVRALGHDLLPPGGAPAGLRVLDAAGKLVLPGGIDTHTHMQFPFMGSRSI DDFHQGTKAALSGGTTMIIDFAIPQKGGSLIEAFETWRSWADPKVCCDYSLHVAVTWWSDQVKEEMKILVQDKGVNSFKM FMAYKDLYMVTDLELYEAFSRCKEIGAIAQVHAENGDLIAEGAKKMLALGITGPEGHELCRPEAVEAEATLRAITIASAV NCPLYIVHVMSKSAAKVIADARRDGKVVYGEPIAASLGTDGTHYWNKEWHHAAHHVMGPPLRPDPSTPDFLMNLLANDDL TTTGTDNCTFNTCQKALGKDDFTKIPNGVNGVEDRMSVIWEKGVHSGKMDENRFVAVTSTNAAKIFNLYPRKGRIAVGSD ADIVIWDPKGTRGCRSCVAFSDNGSVYKTNMNLPLQCLANARVHMEERTISAKTHHQAVNFNIFEGMVCHRVPLVTISRG KVVYEAGVFSVTAGDGKFIPRKPFAEYIYKRIKQRDR*

Gene Symbol:	DPYS
Accession:	XM_047421418
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	382

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPSRLLIRGGRVVNDDFSEVADVLVEDGVVRALGHDLLPPGGAPAGLRVLDAAGKLVLPGGIDTHTHMQFPFMGSRSI DDFHQGTKVKEEMKILVQDKGVNSFKMFMAYKDLYMVTDLELYEAFSRCKEIGAIAQVHAENGDLIAEGAKKMLALGITG PEGHELCRPEAVEAEATLRAITIASAVNCPLYIVHVMSKSAAKVIADARRDGKVVYGEPIAASLGTDGTHYWNKEWHHAA HHVMGPPLRPDPSTPDFLMNLLANDDLTTTGTDNCTFNTCQKALGKDDFTKIPNGVNGVEDRMSVIWEKGVHSGKMDENR FVAVTSTNAAKIFNLYPRKGRIAVGSDADIVIWDPKGTRTISAKTHHQAVNFNIFEGMVCHRVPLVTISRGKVVYEAGVF SVTAGDGKFIPRKPFAEYIYKRIKQRDRTCTPTPVERAPYKGEVATLKSRVTKEDATAGTRKQAHP*

Gene Symbol:	DPYS
Accession:	XM_047421415
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	471

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPSRLLIRGGRVVNDDFSEVADVLVEDGVVRALGHDLLPPGGAPAGLRVLDAAGKLVLPGGIDTHTHMQFPFMGSRSI DDFHQGTKAALSGGTTMIIDFAIPQKGGSLIEAFETWRSWADPKVCCDYSLHVAVTWWSDQVKEEMKILVQDKGVNSFKM FMAYKDLYMVTDLELYEAFSRCKEIGAIAQVHAENGDLIAEGAKKMLALGITGPEGHELCRPEAVEAEATLRAITIASAV NCPLYIVHVMSKSAAKVIADARRDGKVVYGEPIAASLGTDGTHYWNKEWHHAAHHVMGPPLRPDPSTPDFLMNLLANDDL TTTGTDNCTFNTCQKALGKDDFTKIPNGVNGVEDRMSVIWEKGVHSGKMDENRFVAVTSTNAAKIFNLYPRKGRIAVGSD ADIVIWDPKGTRGCRSCVAFSDNGSVYKTNMNLPLQCLANARVHMEERTISAKTHHQAVNFNIFEGMVCHRVPLVTISRG KVVYEAGVFSVTAGDGKFIPRKPFAEYIYKRIKQRDRTCTPTPVERAPYKGEVATLKSRVTKEDATAGTRKQAHP*

Gene Symbol:	DPYS
Accession:	NM_001385
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	435

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPSRLLIRGGRVVNDDFSEVADVLVEDGVVRALGHDLLPPGGAPAGLRVLDAAGKLVLPGGIDTHTHMQFPFMGSRSI DDFHQGTKAALSGGTTMIIDFAIPQKGGSLIEAFETWRSWADPKVCCDYSLHVAVTWWSDQVKEEMKILVQDKGVNSFKM FMAYKDLYMVTDLELYEAFSRCKEIGAIAQVHAENGDLIAEGAKKMLALGITGPEGHELCRPEAVEAEATLRAITIASAV NCPLYIVHVMSKSAAKVIADARRDGKVVYGEPIAASLGTDGTHYWNKEWHHAAHHVMGPPLRPDPSTPDFLMNLLANDDL TTTGTDNCTFNTCQKALGKDDFTKIPNGVNGVEDRMSVIWEKGVHSGKMDENRFVAVTSTNAAKIFNLYPRKGRIAVGSD ADIVIWDPKGTRTISAKTHHQAVNFNIFEGMVCHRVPLVTISRGKVVYEAGVFSVTAGDGKFIPRKPFAEYIYKRIKQRD RTCTPTPVERAPYKGEVATLKSRVTKEDATAGTRKQAHP*

Gene Symbol:	DPYS
Accession:	XM_005250818
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	471

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPSRLLIRGGRVVNDDFSEVADVLVEDGVVRALGHDLLPPGGAPAGLRVLDAAGKLVLPGGIDTHTHMQFPFMGSRSI DDFHQGTKAALSGGTTMIIDFAIPQKGGSLIEAFETWRSWADPKVCCDYSLHVAVTWWSDQVKEEMKILVQDKGVNSFKM FMAYKDLYMVTDLELYEAFSRCKEIGAIAQVHAENGDLIAEGAKKMLALGITGPEGHELCRPEAVEAEATLRAITIASAV NCPLYIVHVMSKSAAKVIADARRDGKVVYGEPIAASLGTDGTHYWNKEWHHAAHHVMGPPLRPDPSTPDFLMNLLANDDL TTTGTDNCTFNTCQKALGKDDFTKIPNGVNGVEDRMSVIWEKGVHSGKMDENRFVAVTSTNAAKIFNLYPRKGRIAVGSD ADIVIWDPKGTRGCRSCVAFSDNGSVYKTNMNLPLQCLANARVHMEERTISAKTHHQAVNFNIFEGMVCHRVPLVTISRG KVVYEAGVFSVTAGDGKFIPRKPFAEYIYKRIKQRDRTCTPTPVERAPYKGEVATLKSRVTKEDATAGTRKQAHP*

Gene Symbol:	DPYS
Accession:	XM_047421416
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	435

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAPSRLLIRGGRVVNDDFSEVADVLVEDGVVRALGHDLLPPGGAPAGLRVLDAAGKLVLPGGIDTHTHMQFPFMGSRSI DDFHQGTKAALSGGTTMIIDFAIPQKGGSLIEAFETWRSWADPKVCCDYSLHVAVTWWSDQVKEEMKILVQDKGVNSFKM FMAYKDLYMVTDLELYEAFSRCKEIGAIAQVHAENGDLIAEGAKKMLALGITGPEGHELCRPEAVEAEATLRAITIASAV NCPLYIVHVMSKSAAKVIADARRDGKVVYGEPIAASLGTDGTHYWNKEWHHAAHHVMGPPLRPDPSTPDFLMNLLANDDL TTTGTDNCTFNTCQKALGKDDFTKIPNGVNGVEDRMSVIWEKGVHSGKMDENRFVAVTSTNAAKIFNLYPRKGRIAVGSD ADIVIWDPKGTRTISAKTHHQAVNFNIFEGMVCHRVPLVTISRGKVVYEAGVFSVTAGDGKFIPRKPFAEYIYKRIKQRD R*

Gene Symbol:	DPYS
Accession:	XM_017013167
Location:	INTRON

Gene Symbol:	DPYS
Accession:	XM_047421419
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:9718352

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000000208	CLINVAR
dbSNP (RS)	rs267606773	CLINVAR
MedGen	C0342803	CLINVAR
NCBI Gene	DPYS	CLINVAR
OMIM	222748	CLINVAR
	613326	CLINVAR
OMIM Allele	613326.0002	CLINVAR
SNOMED CT	238014002	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
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InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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

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

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Variant: RGD:8555485 - Homo sapiens

Imported Disease Annotations - ClinVar