RGD:8602127 Rat Genome Database

Variant: RGD:8602127 - Homo sapiens

RGD ID:

8602127

RS ID:

rs387906755

ClinVar ID:

CV39034

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

AUH

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	9	94,060,305
GRCh38	9	91,298,023

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
NG_008017.1:g.68902G>A NC_000009.12:g.91298023C>T NC_000009.11:g.94060305C>T NP_001689.1:p.Gly187Ser More...	02/11/2015	missense\|missense variant	pathogenic	neonatal/infancy	<1 / 1 000 000	3 alpha methylglutaconic aciduria type I; 3 methylglutaconic aciduria type I; 3 methylglutaconyl CoA hydratase deficiency; 3MG CoA hydratase deficiency; MGA type I; none provided

Disease Annotations Click to see Annotation Detail View

3-methylglutaconic aciduria type 1 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	AUH
Accession:	NM_001698
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	187

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSK IRAVINDIANLPVPTIAAIDGLALGGSLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSA RVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKD RLEGLLAFKEKRPPRYKGE*

Gene Symbol:	AUH
Accession:	XM_005252067
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	197

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMS SSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGSLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGM SLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMETIPTKDRLEGLL AFKEKRPPRYKGE*

Gene Symbol:	AUH
Accession:	XM_005252066
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	197

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMS SSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGSLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGM SLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEA CYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:	AUH
Accession:	XM_005252069
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	197

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMS SSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGSLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGM SLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQVKQIRRC*

Gene Symbol:	AUH
Accession:	XM_005252072
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	187

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSK IRAVINDIANLPVPTIAAIDGLALGGSLELALACDIRVAASSAKMGLVETKLAIIPGGVTSSTEVLNPSKSSMKIGIIIF QTPVNIDILASSHES*

Gene Symbol:	AUH
Accession:	XM_006717150
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	168

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAANLPVPTIAAI DGLALGGSLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLE QNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE *

Gene Symbol:	AUH
Accession:	XM_011518800
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	197

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMS SSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGSLELALACDIRVAASSAKMGLVETKLAIIPGGVTSSTEVLNPSK SSMKIGIIIFQTPVNIDILASSHES*

Gene Symbol:	AUH
Accession:	NM_001306190
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	158

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAANLPVPTIAAIDGLALGGSLE LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR KALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:	AUH
Accession:	XM_017014849
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	187

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSK IRAVINDIANLPVPTIAAIDGLALGGSLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSA RVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMETIPTKDRLEGLLAFKEKRPPRY KGE*

Gene Symbol:	AUH
Accession:	NM_001351433
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	78

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGSLE LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR KALDLAREFLPQGPVAMRVAKLAINQGMETIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:	AUH
Accession:	NM_001351431
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	78

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGSLE LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR KALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:	AUH
Accession:	NM_001351432
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	78

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGSLE LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR KALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:	AUH
Accession:	XM_047423525
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	158

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAANLPVPTIAAIDGLALGGSLE LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR KALDLAREFLPQGPVAMRVAKLAINQGMETIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:	AUH
Accession:	XM_047423528
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	78

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGSLE LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR KALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:	AUH
Accession:	XM_047423527
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	79

Amino Acid Sequence (Calculated using NCBI transcript definition)
MALMCSQMDFKFSLPPATTRDVLEEHSCLCWGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGSL ELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAY RKALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:	AUH
Accession:	XM_047423530
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	39

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGSLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAI GMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIE EACYAQTIPTKDRLEGLLAFKEKRPPRYKGE*

Gene Symbol:	AUH
Accession:	XM_047423526
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	187

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSK IRAVINDIANLPVPTIAAIDGLALGGSLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSA RVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQVKQIRRC*

Gene Symbol:	AUH
Accession:	XM_047423529
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	158

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAANLPVPTIAAIDGLALGGSLE LALACDIRVAASSAKMGLVETKLAIIPGGVTSSTEVLNPSKSSMKIGIIIFQTPVNIDILASSHES*

Gene Symbol:	AUH
Accession:	XR_007061324
Location:	EXON;NON-CODING

Gene Symbol:	AUH
Accession:	XR_007061323
Location:	EXON;NON-CODING

Gene Symbol:	AUH
Accession:	XM_011518803
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:20855850

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000022982	CLINVAR
	RCV000196605	CLINVAR
dbSNP (RS)	rs387906755	CLINVAR
MedGen	C0342727	CLINVAR
	CN517202	CLINVAR
NCBI Gene	AUH	CLINVAR
OMIM	250950	CLINVAR
	600529	CLINVAR
OMIM Allele	600529.0006	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) 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)

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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:8602127 - Homo sapiens

Imported Disease Annotations - ClinVar