RGD:11659857 Rat Genome Database

Variant: RGD:11659857 - Homo sapiens

RGD ID:

11659857

RS ID:

rs774619135

ClinVar ID:

CV295282

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SLC22A5

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	5	131,721,130
GRCh38	5	132,385,438

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
NC_000005.10:g.132385438G>A NC_000005.9:g.131721130G>A NP_003051.1:p.Asp255Asn NG_008982.2:g.20735G>A More...	05/11/2021	missense variant	uncertain significance	infancy	1-9 / 100 000	Carnitine deficiency; Carnitine Deficiency, Systemic; Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine; Carnitine plasma-membrane transporter deficiency; Carnitine transporter deficiency; CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF; Carnitine uptake defect; Decreased plasma carnitine; Primary carnitine deficiency; Systemic primary carnitine deficiency disease

Disease Annotations Click to see Annotation Detail View

carnitine palmitoyltransferase II deficiency (IAGP)

systemic primary carnitine deficiency disease (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Decreased circulating carnitine concentration (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SLC22A5
Accession:	XM_047417596
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQHLSWVWPSGWRTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRNWRMLLVALTMPGVLCVALWWFIPESPRWL ISQGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLD TPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFS MVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQM LRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF*

Gene Symbol:	SLC22A5
Accession:	NM_003060
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	255

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHS CRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEWNLVCEDDWKAPLTISLFFVGVLLGSFIS GQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGTEILGKSVRIIFSTLGVCIFYA FGYMVLPLFAYFIRNWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQD LSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRR YSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYF VYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF*

Gene Symbol:	SLC22A5
Accession:	XM_047417597
Location:	EXON
Amino Acid Prediction:	R to K (nonsynonymous)
Amino Acid Position:	285

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHS CRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEQDSGAYNAMKNRMGKKPALCLPAQWNLVC EDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFV LGMAIRLEDRNSWQVSSYNILYVRSVHILCIWLHGAATVCLLHPKLADAAGGADDAGGAMRGTLVVHP*

Gene Symbol:	SLC22A5
Accession:	NM_001308122
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	279

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHS CRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEQDSGAYNAMKNRMGKKPALCLPAQWNLVC EDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFV LGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRNWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVI IRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNC FLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPT VVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTP SHTRMLKDGQERPTILKSTAF*

Gene Symbol:	SLC22A5
Accession:	XM_017009778
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	79

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRNW RMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLR TWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLF MQLVPPDLYYLATVLVMVGKFGVTAAFSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMG SLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF*

Gene Symbol:	SLC22A5
Accession:	XM_011543590
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	49

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQHLSWVWPSGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRNWRMLLVALTMPGVLCVALWWFIPESPRWLIS QGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTP NLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAAFSMV YVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLR VKGMKHRKTPSHTRMLKDGQERPTILKSTAF*

Gene Symbol:	SLC22A5
Accession:	XM_047417595
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	279

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHS CRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEQDSGAYNAMKNRMGKKPALCLPAQWNLVC EDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFV LGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRNWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVI IRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIML*

Gene Symbol:	SLC22A5
Accession:	XM_047417598
Location:	EXON
Amino Acid Prediction:	R to K (nonsynonymous)
Amino Acid Position:	283

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHS CRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEQDSGAYNAMKNRMGKKPALCLPAQWNLVC EDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFV LGMAIRDRNSWQVSSYNILYVRSVHILCIWLHGAATVCLLHPKLADAAGGADDAGGAMRGTLVVHP*

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	RCV000362028	CLINVAR
	RCV002226462	CLINVAR
dbSNP (RS)	rs774619135	CLINVAR
MedGen	C0342788	CLINVAR
	C1142132	CLINVAR
NCBI Gene	SLC22A5	CLINVAR
OMIM	212140	CLINVAR
	603377	CLINVAR
SNOMED CT	21764004	CLINVAR
	421784001	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:11659857 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:11659857 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar