RGD:38497143 Rat Genome Database

RGD ID:

38497143

RS ID:

rs150501365

ClinVar ID:

CV949362

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	16	29,824,805
GRCh38	16	29,813,484

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001256442.2:c.430C>G NM_001256443.2:c.430C>G NM_145239.3:c.430C>G NG_032039.1:g.6397C>G More...	07/22/2019	missense variant	uncertain significance	Familial paroxysmal dystonia; Paroxysmal kinesigenic dyskinesia

Disease Annotations Click to see Annotation Detail View

Variant Details

Variant Transcripts

Gene Symbol:	PRRT2
Accession:	NM_001256443
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	144

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDARPDSQPTPKPALQPEL PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR GSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMVSPMGP*

Gene Symbol:	PRRT2
Accession:	XM_017022889
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	144

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDARPDSQPTPKPALQPEL PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR GSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVA LVGGVLIIIASCVINLGDAA*

Gene Symbol:	PRRT2
Accession:	NM_001256442
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	144

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDARPDSQPTPKPALQPEL PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR GSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVA LVGGVLIIIASCVINLGGEWGLGTGRGGMEGLARAALLTPAPALSCLSSLPLLCLSLSPPPPVCPSLSSPTVYK*

Gene Symbol:	PRRT2
Accession:	XM_017022888
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	144

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDARPDSQPTPKPALQPEL PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR GSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVA LVGGVLIIIASCVINLGVYK*

Gene Symbol:	PRRT2
Accession:	XM_011545715
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	144

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDARPDSQPTPKPALQPEL PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR GSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVA LVGGVLIIIASCVINLGGEWGLGTGRGGMEGLARAALLTPAPALSCLSSLPLLCLSLSPPPPVCPSLSSPTVYK*

Gene Symbol:	PRRT2
Accession:	NM_145239
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	144

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDARPDSQPTPKPALQPEL PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR GSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVA LVGGVLIIIASCVINLGVYK*

Gene Symbol:	PRRT2
Accession:	XM_017022887
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	144

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVDSGPKAGLAPETTETPAGASE TAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDARPDSQPTPKPALQPEL PTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR GSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMSRNSLQQGDVDGAQRLGRVAKLLSIVA LVGGVLIIIASCVINLGGCCMSLKHQ*

Variant Samples

Additional References at PubMed

PMID:28492532

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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