RGD:12740722 Rat Genome Database

Variant: RGD:12740722 - Homo sapiens

RGD ID:

12740722

RS ID:

rs766782678

ClinVar ID:

CV360511

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ADSL

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	22	40,760,345
GRCh38	22	40,364,341

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_000022.11:g.40364341G>A NC_000022.10:g.40760345G>A NM_000026.2:c.1167G>A NP_000017.1:p.Met389Ile More...	12/05/2016	missense variant	uncertain significance	AllHighlyPenetrant

Disease Annotations Click to see Annotation Detail View

adenylosuccinase lyase deficiency (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ADSL
Accession:	NM_000026
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	389

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHF QPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITG QTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQ TASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAIVKAGGSRQDCH EKIRVLSQQAASVVKQEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKVKA ELCL*

Gene Symbol:	ADSL
Accession:	NM_001410814
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	374

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTLARVISRLADFAKERASLPTLGFTHFQPAQLTTVGKRCCLW IQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITGQTYTRKVDIEVLSVL ASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQTASVQWFERTLDDSA NRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAIVKAGGSRQDCHEKIRVLSQQAASVVK QEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKVKAELCL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	389

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHF QPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITG QTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQ TASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAIVKAGGSRQDCH EKIRVLSQQAASVVKQEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKCKQ VPLDKNVVCVIPCCISNSKSTSDTWQLGSLPASATAPDFLVAWIYS*

Gene Symbol:	ADSL
Accession:	NM_001410812
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	389

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHF QPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITG QTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQ TASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAIVKAGGSRQDCH EKIRVLSQQAASVVKQEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKCKQ VPLDKNVVCVIPCCISNSKSTSDTWQLGSLPASATAPDFLVAWIYS*

Gene Symbol:	ADSL
Accession:	NM_001317923
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	325

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSNLENIDFKMAAEEEKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLAD FAKERASLPTLGFTHFQPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDK MVTEKAGFKRAFIITGQTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERC CSLARHLMTLVMDPLQTASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATEN IIMAIVKAGGSRQDCHEKIRVLSQQAASVVKQEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEE VYPLLKPYESVMKVKAELCL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	374

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTLARVISRLADFAKERASLPTLGFTHFQPAQLTTVGKRCCLW IQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITGQTYTRKVDIEVLSVL ASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQTASVQWFERTLDDSA NRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAIVKAGGSRQDCHEKIRVLSQQAASVVK QEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKVKAELCL*

Gene Symbol:	ADSL
Accession:	XM_017028636
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	374

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTLARVISRLADFAKERASLPTLGFTHFQPAQLTTVGKRCCLW IQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITGQTYTRKVDIEVLSVL ASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQTASVQWFERTLDDSA NRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAIVKAGGSRQDCHEKIRVLSQQAASVVK QEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKCKQVPLDKNVVCVIPCCI SNSKSTSDTWQLGSLPASATAPDFLVAWIYS*

Gene Symbol:	ADSL
Accession:	NM_001363840
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	389

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHF QPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITG QTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQ TASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAIVKAGGSRQDCH EKIRVLSQQAASVVKQEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKVSF *

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	389

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHF QPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITG QTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQ TASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAIVKAGGSRQVQR FLEEEVYPLLKPYESVMKCKQVPLDKNVVCVIPCCISNSKSTSDTWQLGSLPASATAPDFLVAWIYS*

Gene Symbol:	ADSL
Accession:	NM_001410816
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	389

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHF QPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITG QTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQ TASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAIVKAGGSRQVQR FLEEEVYPLLKPYESVMKCKQVPLDKNVVCVIPCCISNSKSTSDTWQLGSLPASATAPDFLVAWIYS*

Gene Symbol:	ADSL
Accession:	NM_001123378
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	389

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHF QPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITG QTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQ TASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAIVKAGGSRQVQR FLEEEVYPLLKPYESVMKVKAELCL*

Gene Symbol:	ADSL
Accession:	XM_047441168
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	234

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLETILPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRA FIITGQTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLV MDPLQTASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAIVKAGGS RQDCHEKIRVLSQQAASVVKQEGGDNDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESV MKCKQVPLDKNVVCVIPCCISNSKSTSDTWQLGSLPASATAPDFLVAWIYS*

Gene Symbol:	ADSL
Accession:	NR_134256
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000412930	CLINVAR
	RCV001351733	CLINVAR
dbSNP (RS)	rs766782678	CLINVAR
MedGen	C0268126	CLINVAR
	CN169374	CLINVAR
NCBI Gene	ADSL	CLINVAR
OMIM	103050	CLINVAR
	608222	CLINVAR
SNOMED CT	15285008	CLINVAR

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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:12740722 - Homo sapiens

Imported Disease Annotations - ClinVar