RGD:11664827 Rat Genome Database

RGD ID:

11664827

RS ID:

rs886051202

ClinVar ID:

CV322636

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	15	45,656,098
GRCh38	15	45,363,900

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NC_000015.10:g.45363900C>G NC_000015.9:g.45656098C>G NP_001473.1:p.Gly387Arg NG_011674.2:g.43418G>C More...	06/14/2016	missense variant	uncertain significance	infancy	<1 / 1 000 000	AGAT deficiency; CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CREATINE DEFICIENCY SYNDROME DUE TO AGAT DEFICIENCY; GATM DEFICIENCY; L-Arginine:Glycine Amidinotransferase Deficiency

Disease Annotations Click to see Annotation Detail View

Variant Details

Variant Transcripts

Gene Symbol:	GATM
Accession:	NM_001321015
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	258

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCNILKTEGVTVRRPDPIDWSLKYKTPDFESTGLYSAMPRDILIVVGNEIIEAPMAWRSRFFEYRAYRSIIKDYFHRGAK WTTAPKPTMADELYNQDYPIHSVEDRHKLAAQGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEWMRRHLAPDY RVHIISFKDPNPMHIDATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTIITPPTPIIPDDHPLWMSSKWLSMNVLMLDEKR VMVDANEVPIQKMFEKLRITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQSYLD*

Gene Symbol:	GATM
Accession:	XM_047432386
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	403

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLFVFKKLTEVLFRRSTSLAALSTLRESDLRGGCILLLGLGRTLTGWVQRTFQSTQAATASSRNSCAADDKATEPLPKDC PVSSYNEWDPLEEVIVGRAENACVPPFTIEVKANTYEKYWPFYQKQGGHYFPKDHLKKAVAEIEEMCNILKTEGVTVRRP DPIDWSLKYKTPDFESTGLYSAMPRDILIVVGNEIIEAPMAWRSRFFEYRAYRSIIKDYFHRGAKWTTAPKPTMADELYN QDYPIHSVEDRHKLAAQGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEWMRRHLAPDYRVHIISFKDPNPMHI DATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTIITPPTPIIPDDHPLWMSSKWLSMNVLMLDEKRVMVDANEVPIQKMFE KLRITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQSYLD*

Gene Symbol:	GATM
Accession:	XM_047432385
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	440

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRGAAGAERGYKRPRAPRARPPRSGRALGKAWTDAAQRPGTFRAWTSRARAMLRVRCLRGGSRGAEAVHYIGSRLGRT LTGWVQRTFQSTQAATASSRNSCAADDKATEPLPKDCPVSSYNEWDPLEEVIVGRAENACVPPFTIEVKANTYEKYWPFY QKQGGHYFPKDHLKKAVAEIEEMCNILKTEGVTVRRPDPIDWSLKYKTPDFESTGLYSAMPRDILIVVGNEIIEAPMAWR SRFFEYRAYRSIIKDYFHRGAKWTTAPKPTMADELYNQDYPIHSVEDRHKLAAQGKFVTTEFEPCFDAADFIRAGRDIFA QRSQVTNYLGIEWMRRHLAPDYRVHIISFKDPNPMHIDATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTIITPPTPIIPD DHPLWMSSKWLSMNVLMLDEKRVMVDANEVPIQKMFEKLRITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQSYLD*

Gene Symbol:	GATM
Accession:	XM_047432388
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	258

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCNILKTEGVTVRRPDPIDWSLKYKTPDFESTGLYSAMPRDILIVVGNEIIEAPMAWRSRFFEYRAYRSIIKDYFHRGAK WTTAPKPTMADELYNQDYPIHSVEDRHKLAAQGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEWMRRHLAPDY RVHIISFKDPNPMHIDATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTIITPPTPIIPDDHPLWMSSKWLSMNVLMLDEKR VMVDANEVPIQKMFEKLRITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQSYLD*

Gene Symbol:	GATM
Accession:	NM_001482
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	387

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRVRCLRGGSRGAEAVHYIGSRLGRTLTGWVQRTFQSTQAATASSRNSCAADDKATEPLPKDCPVSSYNEWDPLEEVIV GRAENACVPPFTIEVKANTYEKYWPFYQKQGGHYFPKDHLKKAVAEIEEMCNILKTEGVTVRRPDPIDWSLKYKTPDFES TGLYSAMPRDILIVVGNEIIEAPMAWRSRFFEYRAYRSIIKDYFHRGAKWTTAPKPTMADELYNQDYPIHSVEDRHKLAA QGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEWMRRHLAPDYRVHIISFKDPNPMHIDATFNIIGPGIVLSNP DRPCHQIDLFKKAGWTIITPPTPIIPDDHPLWMSSKWLSMNVLMLDEKRVMVDANEVPIQKMFEKLRITTIKVNIRNANS LGGGFHCWTCDVRRRGTLQSYLD*

Gene Symbol:	GATM
Accession:	XM_047432387
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	403

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLFVFKKLTEVLFRRSTSLAALSTLRESDLRGGCILLLGLGRTLTGWVQRTFQSTQAATASSRNSCAADDKATEPLPKDC PVSSYNEWDPLEEVIVGRAENACVPPFTIEVKANTYEKYWPFYQKQGGHYFPKDHLKKAVAEIEEMCNILKTEGVTVRRP DPIDWSLKYKTPDFESTGLYSAMPRDILIVVGNEIIEAPMAWRSRFFEYRAYRSIIKDYFHRGAKWTTAPKPTMADELYN QDYPIHSVEDRHKLAAQGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYLGIEWMRRHLAPDYRVHIISFKDPNPMHI DATFNIIGPGIVLSNPDRPCHQIDLFKKAGWTIITPPTPIIPDDHPLWMSSKWLSMNVLMLDEKRVMVDANEVPIQKMFE KLRITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQSYLD*

Variant Samples

Additional Information

External Database Links

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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