RGD:14719986 Rat Genome Database

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Variant: RGD:14719986 -  Homo sapiens

RGD ID: 14719986
RS ID: rs745530000
ClinVar ID: CV638770
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OAT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 126,086,603
GRCh38 10 124,398,034
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000274.3:c.1228G>A
NM_001322967.2:c.1228G>A
NM_001322968.2:c.1228G>A
NP_001309899.1:p.Asp410Asn
More... 		11/06/2018 missense variant uncertain significance Girate atrophy of the retina; Gyrate atrophy; Gyrate atrophy of choroid and retina; Hyperornithinemia with gyrate atrophy of choroid and retina; OAT deficiency; OKT deficiency; Ornithine ketoacid aminotransferase deficiency
Disease Annotations     Click to see Annotation Detail View
gyrate atrophy  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:OAT
Accession:NM_001322974
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVVPDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDY
ENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHGSTYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNEL
MKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDNGLLAKPTHGNIIRFAPPLVIKEDELRESIEIINKTILSF*

Gene Symbol:OAT
Accession:NM_001322967
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 410
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKGIYLWDVEGRKYFD
FLSSYSAVNQGHCHPKIVNALKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTV
KGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVV
PDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHG
STYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDN
GLLAKPTHGNIIRFAPPLVIKEDELRESIEIINKTILSF*

Gene Symbol:OAT
Accession:NM_001322971
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 303
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKAGNFWGRTLSAISS
STDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVVPDPGYLMGVRELCTRHQVLFIADEIQT
GLARTGRWLAVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHGSTYGGNPLGCRVAIAALEVLEEENLAE
NADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDNGLLAKPTHGNIIRFAPPLVIKEDELRE
SIEIINKTILSF*

Gene Symbol:OAT
Accession:NM_001322966
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 410
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKGIYLWDVEGRKYFD
FLSSYSAVNQGHCHPKIVNALKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTV
KGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVV
PDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHG
STYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDN
GLLAKPTHGNIIRFAPPLVIKEDELRESIEIINKTILSF*

Gene Symbol:OAT
Accession:NM_000274
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 410
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKGIYLWDVEGRKYFD
FLSSYSAVNQGHCHPKIVNALKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTV
KGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVV
PDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHG
STYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDN
GLLAKPTHGNIIRFAPPLVIKEDELRESIEIINKTILSF*

Gene Symbol:OAT
Accession:NM_001322969
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 410
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKGIYLWDVEGRKYFD
FLSSYSAVNQGHCHPKIVNALKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTV
KGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVV
PDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHG
STYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDN
GLLAKPTHGNIIRFAPPLVIKEDELRESIEIINKTILSF*

Gene Symbol:OAT
Accession:NM_001171814
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 272
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNTGVEAGETACKLARKWGYTVKGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERA
LQDPNVAAFMVEPIQGEAGVVVPDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGL
YPVSAVLCDDDIMLTIKPGEHGSTYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLN
AIVIKETKDWDAWKVCLRLRDNGLLAKPTHGNIIRFAPPLVIKEDELRESIEIINKTILSF*

Gene Symbol:OAT
Accession:NM_001322965
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 410
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKGIYLWDVEGRKYFD
FLSSYSAVNQGHCHPKIVNALKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTV
KGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVV
PDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHG
STYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDN
GLLAKPTHGNIIRFAPPLVIKEDELRESIEIINKTILSF*

Gene Symbol:OAT
Accession:NM_001322968
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 410
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKGIYLWDVEGRKYFD
FLSSYSAVNQGHCHPKIVNALKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTV
KGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVV
PDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHG
STYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDN
GLLAKPTHGNIIRFAPPLVIKEDELRESIEIINKTILSF*

Gene Symbol:OAT
Accession:NM_001322970
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 410
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKGIYLWDVEGRKYFD
FLSSYSAVNQGHCHPKIVNALKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTV
KGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVV
PDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHG
STYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDN
GLLAKPTHGNIIRFAPPLVIKEDELRESIEIINKTILSF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000796441 CLINVAR
dbSNP (RS) rs745530000 CLINVAR
MedGen C0018425 CLINVAR
NCBI Gene OAT CLINVAR
OMIM 258870 CLINVAR
  613349 CLINVAR
SNOMED CT 276426004 CLINVAR