RGD:8602129 Rat Genome Database

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Variant: RGD:8602129 -  Homo sapiens

RGD ID: 8602129
RS ID: rs387906757
ClinVar ID: CV39036
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AUH  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 93,976,659
GRCh38 9 91,214,377
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008017.1:g.152548A>T
NC_000009.12:g.91214377T>A
NC_000009.11:g.93976659T>A
NP_001689.1:p.Lys331Ter
More... 		11/15/2018 nonsense|stop-gain pathogenic|conflicting interpretations of pathogenicity|uncertain significance 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AUH
Accession:NM_001351433
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 206
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLAREFLPQGPVAMRVAKLAINQGMETIPTKDRLEGLLAFKE*RPPRYKGE*

Gene Symbol:AUH
Accession:NM_001698
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 331
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSK
IRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSA
RVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKD
RLEGLLAFKE*RPPRYKGE*

Gene Symbol:AUH
Accession:XM_005252067
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 325
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMS
SSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGM
SLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMETIPTKDRLEGLL
AFKE*RPPRYKGE*

Gene Symbol:AUH
Accession:NM_001351432
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKE*RPPRYKGE*

Gene Symbol:AUH
Accession:XM_006717150
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 312
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAANLPVPTIAAI
DGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLE
QNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKE*RPPRYKGE
*

Gene Symbol:AUH
Accession:NM_001351431
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKE*RPPRYKGE*

Gene Symbol:AUH
Accession:XM_047423528
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKE*RPPRYKGE*

Gene Symbol:AUH
Accession:XM_047423527
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 223
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALMCSQMDFKFSLPPATTRDVLEEHSCLCWGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGL
ELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAY
RKALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKE*RPPRYKGE*

Gene Symbol:AUH
Accession:XM_047423530
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAI
GMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIE
EACYAQTIPTKDRLEGLLAFKE*RPPRYKGE*

Gene Symbol:AUH
Accession:NM_001306190
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKE*RPPRYKGE*

Gene Symbol:AUH
Accession:XM_047423525
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 286
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAANLPVPTIAAIDGLALGGGLE
LALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYR
KALDLAREFLPQGPVAMRVAKLAINQGMETIPTKDRLEGLLAFKE*RPPRYKGE*

Gene Symbol:AUH
Accession:XM_005252066
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 341
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRDSSSMAADHYRIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMS
SSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGM
SLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEA
CYAQTIPTKDRLEGLLAFKE*RPPRYKGE*

Gene Symbol:AUH
Accession:XM_017014849
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 315
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVR
HLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSK
IRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSA
RVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMETIPTKDRLEGLLAFKE*RPPRY
KGE*

Gene Symbol:AUH
Accession:XM_011518800
Location:INTRON

Gene Symbol:AUH
Accession:XM_047423529
Location:INTRON

Gene Symbol:AUH
Accession:XM_005252069
Location:INTRON

Gene Symbol:AUH
Accession:XM_011518803
Location:INTRON

Gene Symbol:AUH
Accession:XM_005252072
Location:INTRON

Gene Symbol:AUH
Accession:XM_047423526
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:20855850   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000022984 CLINVAR
dbSNP (RS) rs387906757 CLINVAR
MedGen C0342727 CLINVAR
NCBI Gene AUH CLINVAR
OMIM 250950 CLINVAR
  600529 CLINVAR
OMIM Allele 600529.0008 CLINVAR