RGD:12843151 Rat Genome Database

Variant: RGD:12843151 - Homo sapiens

RGD ID:

12843151

RS ID:

rs758241731

ClinVar ID:

CV378732

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ADSL

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	22	40,760,971
GRCh38	22	40,364,967

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.40364967A>G NC_000022.10:g.40760971A>G NP_000017.1:p.Ile427Val NG_007993.2:g.23468A>G More...	05/10/2018	intron variant	uncertain significance	none provided

Disease Annotations Click to see Annotation Detail View

adenylosuccinase lyase deficiency (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ADSL
Accession:	XM_047441168
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	272

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLETILPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRA FIITGQTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLV MDPLQTASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGS RQDCHEKIRVLSQQAASVVKQEGGDNDLIERVQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESV MKCKQVPLDKNVVCVIPCCISNSKSTSDTWQLGSLPASATAPDFLVAWIYS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	427

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

Gene Symbol:	ADSL
Accession:	XM_017028636
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	412

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

Gene Symbol:	ADSL
Accession:	NM_000026
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	427

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

Gene Symbol:	ADSL
Accession:	NM_001363840
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	427

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHF QPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITG QTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQ TASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQDCH EKIRVLSQQAASVVKQEGGDNDLIERVQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKVSF *

Gene Symbol:	ADSL
Accession:	NM_001317923
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	363

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

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	412

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTLARVISRLADFAKERASLPTLGFTHFQPAQLTTVGKRCCLW IQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITGQTYTRKVDIEVLSVL ASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQTASVQWFERTLDDSA NRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQDCHEKIRVLSQQAASVVK QEGGDNDLIERVQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKVKAELCL*

Gene Symbol:	ADSL
Accession:	NM_001410812
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	427

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

Gene Symbol:	ADSL
Accession:	NM_001410814
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	412

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEE EKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTLARVISRLADFAKERASLPTLGFTHFQPAQLTTVGKRCCLW IQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQLFEGDDHKVEQLDKMVTEKAGFKRAFIITGQTYTRKVDIEVLSVL ASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQTASVQWFERTLDDSA NRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQDCHEKIRVLSQQAASVVK QEGGDNDLIERVQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKVKAELCL*

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

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:	ADSL
Accession:	NM_001123378
Location:	INTRON

Gene Symbol:	ADSL
Accession:	NM_001410816
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000435716	CLINVAR
	RCV000696181	CLINVAR
dbSNP (RS)	rs758241731	CLINVAR
MedGen	C0268126	CLINVAR
	C3661900	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)

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:12843151 - Homo sapiens

Imported Disease Annotations - ClinVar