RGD:10045066 Rat Genome Database

Variant: RGD:10045066 - Homo sapiens

RGD ID:

10045066

RS ID:

rs786205458

ClinVar ID:

CV188809

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ADK

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	10	76,349,054
GRCh38	10	74,589,296

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	Trait Synonyms
NC_000010.11:g.74589296T>A NC_000010.10:g.76349054T>A NP_006712.2:p.Phe247Leu NM_001369124.1:c.519T>A More...	12/24/2019	missense variant	likely pathogenic\|uncertain significance	Hypermethioninemia due to adenosine kinase deficiency; MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8; none provided

Disease Annotations Click to see Annotation Detail View

hypermethioninemia due to adenosine kinase deficiency (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ADK
Accession:	NM_001369124
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	173

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTSVRENILFGMGNPLLDISAVVDKDFLDKYSLKPNDQILAEDKHKELFDELVKKFKVEYHAGGSTQNSIKVAQWMIQQP HKAATFFGCIGIDKFGEILKRKAAEAHVDAHYYEQNEQPTGTCAACITGDNRSLIANLAAANCYKKEKHLDLEKNWMLVE KARVCYIAEAATLAREQGFETKDIKEIAKKTQALPKMNSKRQRIVIFTQGRDDTIMATESEVTAFAVLDQDQKEIIDTNG AGDAFVGGFLSQLVSDKPLTECIRAGHYAASIIIRRTGCTFPEKPDFH*

Gene Symbol:	ADK
Accession:	XM_047424620
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	230

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTSVRENILFGMGNPLLDISAVVDKDFLDKYSLKPNDQILAEDKHKELFDELVKKFKVEYHAGGSTQNSIKVAQWMIQQP HKAATFFGCIGIDKFGEILKRKAAEAHVDAHYYEQNEQPTGTCAACITGDNRSLIANLAAANCYKKEKHLDLEKNWMLVE KARVCYIAGFFLTVSPESVLKVAHHASENNRIFTLNLSAPFISQFYKESLMKVMPYVDILFGNETEAATLAREQGFETKD IKEIAKKTQALPKMNSKRQRIVIFTQGRDDTIMATGRIKRKEDKWAQWLTPVTLAPWEVKVGGLLDPRSWRPALVTARLH LYKKKWKKKKN*

Gene Symbol:	ADK
Accession:	XM_017015698
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	247

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAEEEPKPKKLKVEAPQALRENILFGMGNPLLDISAVVDKDFLDKYSLKPNDQILAEDKHKELFDELVKKFKVEYHAG GSTQNSIKVAQWMIQQPHKAATFFGCIGIDKFGEILKRKAAEAHVDAHYYEQNEQPTGTCAACITGDNRSLIANLAAANC YKKEKHLDLEKNWMLVEKARVCYIAGFFLTVSPESVLKVAHHASENNRIFTLNLSAPFISQFYKESLMKVMPYVDILFGN ETEAATLAREQGFETKDIKEIAKKTQALPKMNSKRQRIVIFTQGRDDTIMATGRIKRKEDKWAQWLTPVTLAPWEVKVGG LLDPRSWRPALVTARLHLYKKKWKKKKN*

Gene Symbol:	ADK
Accession:	NM_001369123
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	247

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAEEEPKPKKLKVEAPQALRENILFGMGNPLLDISAVVDKDFLDKYSLKPNDQILAEDKHKELFDELVKKFKVEYHAG GSTQNSIKVAQWMIQQPHKAATFFGCIGIDKFGEILKRKAAEAHVDAHYYEQNEQPTGTCAACITGDNRSLIANLAAANC YKKEKHLDLEKNWMLVEKARVCYIAGFFLTVSPESVLKVAHHASENNRIFTLNLSAPFISQFYKESLMKVMPYVDILFGN ETEAATLAREQGFEKVKSLLLLSWIKTRKKLLIPMELEMHLLEVFCLNWSLTSL*

Gene Symbol:	ADK
Accession:	NM_006721
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	247

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAEEEPKPKKLKVEAPQALRENILFGMGNPLLDISAVVDKDFLDKYSLKPNDQILAEDKHKELFDELVKKFKVEYHAG GSTQNSIKVAQWMIQQPHKAATFFGCIGIDKFGEILKRKAAEAHVDAHYYEQNEQPTGTCAACITGDNRSLIANLAAANC YKKEKHLDLEKNWMLVEKARVCYIAGFFLTVSPESVLKVAHHASENNRIFTLNLSAPFISQFYKESLMKVMPYVDILFGN ETEAATLAREQGFETKDIKEIAKKTQALPKMNSKRQRIVIFTQGRDDTIMATESEVTAFAVLDQDQKEIIDTNGAGDAFV GGFLSQLVSDKPLTECIRAGHYAASIIIRRTGCTFPEKPDFH*

Gene Symbol:	ADK
Accession:	XM_017015703
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	155

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIQQPHKAATFFGCIGIDKFGEILKRKAAEAHVDAHYYEQNEQPTGTCAACITGDNRSLIANLAAANCYKKEKHLDLEKN WMLVEKARVCYIAGFFLTVSPESVLKVAHHASENNRIFTLNLSAPFISQFYKESLMKVMPYVDILFGNETEAATLAREQG FETKDIKEIAKKTQALPKMNSKRQRIVIFTQGRDDTIMATESEVTAFAVLDQDQKEIIDTNGAGDAFVGGFLSQLVSDKP LTECIRAGHYAASIIIRRTGCTFPEKPDFH*

Gene Symbol:	ADK
Accession:	NM_001202449
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTSVRENILFGMGNPLLDISAVVDKDFLDKFDELVKKFKVEYHAGGSTQNSIKVAQWMIQQPHKAATFFGCIGIDKFGEI LKRKAAEAHVDAHYYEQNEQPTGTCAACITGDNRSLIANLAAANCYKKEKHLDLEKNWMLVEKARVCYIAGFFLTVSPES VLKVAHHASENNRIFTLNLSAPFISQFYKESLMKVMPYVDILFGNETEAATLAREQGFETKDIKEIAKKTQALPKMNSKR QRIVIFTQGRDDTIMATESEVTAFAVLDQDQKEIIDTNGAGDAFVGGFLSQLVSDKPLTECIRAGHYAASIIIRRTGCTF PEKPDFH*

Gene Symbol:	ADK
Accession:	XM_017015702
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	230

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTSVRENILFGMGNPLLDISAVVDKDFLDKYSLKPNDQILAEDKHKELFDELVKKFKVEYHAGGSTQNSIKVAQWMIQQP HKAATFFGCIGIDKFGEILKRKAAEAHVDAHYYEQNEQPTGTCAACITGDNRSLIANLAAANCYKKEKHLDLEKNWMLVE KARVCYIAGFFLTVSPESVLKVAHHASENNRIFTLNLSAPFISQFYKESLMKVMPYVDILFGNETEAATLAREQGFEKVK SLLLLSWIKTRKKLLIPMELEMHLLEVFCLNWSLTSL*

Gene Symbol:	ADK
Accession:	NM_001123
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	230

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTSVRENILFGMGNPLLDISAVVDKDFLDKYSLKPNDQILAEDKHKELFDELVKKFKVEYHAGGSTQNSIKVAQWMIQQP HKAATFFGCIGIDKFGEILKRKAAEAHVDAHYYEQNEQPTGTCAACITGDNRSLIANLAAANCYKKEKHLDLEKNWMLVE KARVCYIAGFFLTVSPESVLKVAHHASENNRIFTLNLSAPFISQFYKESLMKVMPYVDILFGNETEAATLAREQGFETKD IKEIAKKTQALPKMNSKRQRIVIFTQGRDDTIMATESEVTAFAVLDQDQKEIIDTNGAGDAFVGGFLSQLVSDKPLTECI RAGHYAASIIIRRTGCTFPEKPDFH*

Gene Symbol:	ADK
Accession:	XM_047424621
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	173

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTSVRENILFGMGNPLLDISAVVDKDFLDKYSLKPNDQILAEDKHKELFDELVKKFKVEYHAGGSTQNSIKVAQWMIQQP HKAATFFGCIGIDKFGEILKRKAAEAHVDAHYYEQNEQPTGTCAACITGDNRSLIANLAAANCYKKEKHLDLEKNWMLVE KARVCYIAEAATLAREQGFEKVKSLLLLSWIKTRKKLLIPMELEMHLLEVFCLNWSLTSL*

Gene Symbol:	ADK
Accession:	XM_017015699
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	182

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQFYTKNSSIPTYYTKGRKGKREIYGWMIQQPHKAATFFGCIGIDKFGEILKRKAAEAHVDAHYYEQNEQPTGTCAACIT GDNRSLIANLAAANCYKKEKHLDLEKNWMLVEKARVCYIAGFFLTVSPESVLKVAHHASENNRIFTLNLSAPFISQFYKE SLMKVMPYVDILFGNETEAATLAREQGFETKDIKEIAKKTQALPKMNSKRQRIVIFTQGRDDTIMATESEVTAFAVLDQD QKEIIDTNGAGDAFVGGFLSQLVSDKPLTECIRAGHYAASIIIRRTGCTFPEKPDFH*

Gene Symbol:	ADK
Accession:	NM_001202450
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	190

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAEEEPKPKKLKVEAPQALRENILFGMGNPLLDISAVVDKDFLDKYSLKPNDQILAEDKHKELFDELVKKFKVEYHAG GSTQNSIKVAQWMIQQPHKAATFFGCIGIDKFGEILKRKAAEAHVDAHYYEQNEQPTGTCAACITGDNRSLIANLAAANC YKKEKHLDLEKNWMLVEKARVCYIAEAATLAREQGFETKDIKEIAKKTQALPKMNSKRQRIVIFTQGRDDTIMATESEVT AFAVLDQDQKEIIDTNGAGDAFVGGFLSQLVSDKPLTECIRAGHYAASIIIRRTGCTFPEKPDFH*

Gene Symbol:	ADK
Accession:	XM_017015705
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	190

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAAEEEPKPKKLKVEAPQALRENILFGMGNPLLDISAVVDKDFLDKYSLKPNDQILAEDKHKELFDELVKKFKVEYHAG GSTQNSIKVAQWMIQQPHKAATFFGCIGIDKFGEILKRKAAEAHVDAHYYEQNEQPTGTCAACITGDNRSLIANLAAANC YKKEKHLDLEKNWMLVEKARVCYIAEAATLAREQGFEKVKSLLLLSWIKTRKKLLIPMELEMHLLEVFCLNWSLTSL*

Gene Symbol:	ADK
Accession:	XM_017015704
Location:	INTRON

Gene Symbol:	ADK
Accession:	XM_017015706
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000171178	CLINVAR
	RCV001332841	CLINVAR
dbSNP (RS)	rs786205458	CLINVAR
MedGen	C3661900	CLINVAR
	C4706555	CLINVAR
NCBI Gene	ADK	CLINVAR
OMIM	102750	CLINVAR
	611094	CLINVAR
	614300	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)

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Variant: RGD:10045066 - Homo sapiens

Imported Disease Annotations - ClinVar