RGD:13805419 Rat Genome Database

Variant: RGD:13805419 - Homo sapiens

RGD ID:

13805419

RS ID:

rs61744537

ClinVar ID:

CV573253

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ADA2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	22	17,662,767
GRCh38	22	17,181,877

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
NM_177405.3:c.662T>C NP_803124.1:p.Ile221Thr NP_001269158.1:p.Ile342Thr NP_001269156.1:p.Ile420Thr More...	05/29/2018	missense variant	uncertain significance	Cerebro-vascular lesions and livedo reticularis; Idiopathic livedo reticularis with systemic involvement; Livedo reticularis and cerebrovascular accidents; Polyarteritis nodosa, childhoood-onset; Sneddon's syndrome; Vasculitis due to ADA2 deficiency; VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME

Disease Annotations Click to see Annotation Detail View

Polyarteritis Nodosa, Childhood-Onset (IAGP)

Sneddon syndrome (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ADA2
Accession:	NM_177405
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	221

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDSLEWNWALVYELSGEHHDEEWSVKTYQEVAQKFVETHPEFIGIKIIYSDHRSKDVAVIAESIRMAMGLRIKFPTVVAG FDLVGHEDTGHSLHDYKEALMIPAKDGVKLPYFFHAGETDWQGTSIDRNILDALMLNTTRIGHGFALSKHPAVRTYSWKK DIPIEVCPISNQVLKLVSDLRNHPVATLMATGHPMVISSDDPAMFGAKGLSYDFYEVFMGTGGMKADLRTLKQLAMNSIK YSTLLESEKNTFMEIWKKRWDKFIADVATK*

Gene Symbol:	ADA2
Accession:	NM_001282229
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	342

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDWLVRNVTYRPHCHICFTPRGIMQFRFAHPTPRPSEKCSKWILLEDYRKRVQNVTEFDDSLLRNFTLVTQHPEVIYTNQ NVVWSKFETIFFTISGLIHYAPVFRDYVFRSMQEFYEDNVLYMEIRARLLPVYELSGEHHDEEWSVKTYQEVAQKFVETH PEFIGIKIIYSDHRSKDVAVIAESIRMAMGLRIKFPTVVAGFDLVGHEDTGHSLHDYKEALMIPAKDGVKLPYFFHAGET DWQGTSIDRNILDALMLNTTRIGHGFALSKHPAVRTYSWKKDIPIEVCPISNQVLKLVSDLRNHPVATLMATGHPMVISS DDPAMFGAKGLSYDFYEVFMGTGGMKADLRTLKQLAMNSIKYSTLLESEKNTFMEIWKKRWDKFIADVATK*

Gene Symbol:	ADA2
Accession:	XM_011546133
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	462

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLVDGPSERPALCFLLLAVAMSFFGSALSIDETRAHLLLKEKMMRLGGRLVLNTKEELANERLMTLKIAEMKEAMRTLIF PPSMHFFQAKHLIERSQVFNILRMMPKGAALHLHDIGIVTMDWLVRNVTYRPHCHICFTPRGIMQFRFAHPTPRPSEKCS KWILLEDYRKRVQNVTEFDDSLLRNFTLVTQHPEVIYTNQNVVWSKFETIFFTISGLIHYAPVFRDYVFRSMQEFYEDNV LYMEIRARLLPVYELSGEHHDEEWSVKTYQEVAQKFVETHPEFIGIKIIYSDHRSKDVAVIAESIRMAMGLRIKFPTVVA GFDLVGHEDTGHSLHDYKEALMIPAKDGVKLPYFFHAGETDWQGTSIDRNILDALMLNTTRIGHGFALSKHPAVRTYSWK KDIPIEVCPISNQVLKLVSDLRNHPVATLMATGHPMVISSDDPAMFGAKGLSYDFYEVFMGTGGMKADLRTLKQLAMNSI KYSTLLESEKNTFMEIWKKRWDKFIADVATK*

Gene Symbol:	ADA2
Accession:	XM_047441407
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	231

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQEFYEDNVLYMEIRARLLPVYELSGEHHDEEWSVKTYQEVAQKFVETHPEFIGIKIIYSDHRSKDVAVIAESIRMAMGL RIKFPTVVAGFDLVGHEDTGHSLHDYKEALMIPAKDGVKLPYFFHAGETDWQGTSIDRNILDALMLNTTRIGHGFALSKH PAVRTYSWKKDIPIEVCPISNQVLKLVSDLRNHPVATLMATGHPMVISSDDPAMFGAKGLSYDFYEVFMGTGGMKADLRT LKQLAMNSIKYSTLLESEKNTFMEIWKKRWDKFIADVATK*

Gene Symbol:	ADA2
Accession:	NM_001282225
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	462

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLVDGPSERPALCFLLLAVAMSFFGSALSIDETRAHLLLKEKMMRLGGRLVLNTKEELANERLMTLKIAEMKEAMRTLIF PPSMHFFQAKHLIERSQVFNILRMMPKGAALHLHDIGIVTMDWLVRNVTYRPHCHICFTPRGIMQFRFAHPTPRPSEKCS KWILLEDYRKRVQNVTEFDDSLLRNFTLVTQHPEVIYTNQNVVWSKFETIFFTISGLIHYAPVFRDYVFRSMQEFYEDNV LYMEIRARLLPVYELSGEHHDEEWSVKTYQEVAQKFVETHPEFIGIKIIYSDHRSKDVAVIAESIRMAMGLRIKFPTVVA GFDLVGHEDTGHSLHDYKEALMIPAKDGVKLPYFFHAGETDWQGTSIDRNILDALMLNTTRIGHGFALSKHPAVRTYSWK KDIPIEVCPISNQVLKLVSDLRNHPVATLMATGHPMVISSDDPAMFGAKGLSYDFYEVFMGTGGMKADLRTLKQLAMNSI KYSTLLESEKNTFMEIWKKRWDKFIADVATK*

Gene Symbol:	ADA2
Accession:	NM_001282227
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	420

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMRLGGRLVLNTKEELANERLMTLKIAEMKEAMRTLIFPPSMHFFQAKHLIERSQVFNILRMMPKGAALHLHDIGIVTMD WLVRNVTYRPHCHICFTPRGIMQFRFAHPTPRPSEKCSKWILLEDYRKRVQNVTEFDDSLLRNFTLVTQHPEVIYTNQNV VWSKFETIFFTISGLIHYAPVFRDYVFRSMQEFYEDNVLYMEIRARLLPVYELSGEHHDEEWSVKTYQEVAQKFVETHPE FIGIKIIYSDHRSKDVAVIAESIRMAMGLRIKFPTVVAGFDLVGHEDTGHSLHDYKEALMIPAKDGVKLPYFFHAGETDW QGTSIDRNILDALMLNTTRIGHGFALSKHPAVRTYSWKKDIPIEVCPISNQVLKLVSDLRNHPVATLMATGHPMVISSDD PAMFGAKGLSYDFYEVFMGTGGMKADLRTLKQLAMNSIKYSTLLESEKNTFMEIWKKRWDKFIADVATK*

Gene Symbol:	ADA2
Accession:	NM_001282228
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	420

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMRLGGRLVLNTKEELANERLMTLKIAEMKEAMRTLIFPPSMHFFQAKHLIERSQVFNILRMMPKGAALHLHDIGIVTMD WLVRNVTYRPHCHICFTPRGIMQFRFAHPTPRPSEKCSKWILLEDYRKRVQNVTEFDDSLLRNFTLVTQHPEVIYTNQNV VWSKFETIFFTISGLIHYAPVFRDYVFRSMQEFYEDNVLYMEIRARLLPVYELSGEHHDEEWSVKTYQEVAQKFVETHPE FIGIKIIYSDHRSKDVAVIAESIRMAMGLRIKFPTVVAGFDLVGHEDTGHSLHDYKEALMIPAKDGVKLPYFFHAGETDW QGTSIDRNILDALMLNTTRIGHGFALSKHPAVRTYSWKKDIPIEVCPISNQVLKLVSDLRNHPVATLMATGHPMVISSDD PAMFGAKGLSYDFYEVFMGTGGMKADLRTLKQLAMNSIKYSTLLESEKNTFMEIWKKRWDKFIADVATK*

Gene Symbol:	ADA2
Accession:	NM_001282226
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	462

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLVDGPSERPALCFLLLAVAMSFFGSALSIDETRAHLLLKEKMMRLGGRLVLNTKEELANERLMTLKIAEMKEAMRTLIF PPSMHFFQAKHLIERSQVFNILRMMPKGAALHLHDIGIVTMDWLVRNVTYRPHCHICFTPRGIMQFRFAHPTPRPSEKCS KWILLEDYRKRVQNVTEFDDSLLRNFTLVTQHPEVIYTNQNVVWSKFETIFFTISGLIHYAPVFRDYVFRSMQEFYEDNV LYMEIRARLLPVYELSGEHHDEEWSVKTYQEVAQKFVETHPEFIGIKIIYSDHRSKDVAVIAESIRMAMGLRIKFPTVVA GFDLVGHEDTGHSLHDYKEALMIPAKDGVKLPYFFHAGETDWQGTSIDRNILDALMLNTTRIGHGFALSKHPAVRTYSWK KDIPIEVCPISNQVLKLVSDLRNHPVATLMATGHPMVISSDDPAMFGAKGLSYDFYEVFMGTGGMKADLRTLKQLAMNSI KYSTLLESEKNTFMEIWKKRWDKFIADVATK*

Gene Symbol:	ADA2
Accession:	XM_047441406
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000685706	CLINVAR
	RCV002493140	CLINVAR
	RCV003411593	CLINVAR
dbSNP (RS)	rs61744537	CLINVAR
MedGen	C0282492	CLINVAR
	C3887654	CLINVAR
NCBI Gene	ADA2	CLINVAR
OMIM	182410	CLINVAR
	607575	CLINVAR
	615688	CLINVAR
SNOMED CT	716745004	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:13805419 - Homo sapiens

Imported Disease Annotations - ClinVar