rs763299645 Rat Genome Database

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Variant: rs763299645 - Homo sapiens

RGD ID:

13792218

RS ID:

rs763299645

ClinVar ID:

CV548939

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

NAGLU

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	17	40,696,044
GRCh38	17	42,544,026

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
NG_011552.1:g.13094C>T NC_000017.11:g.42544026C>T NC_000017.10:g.40696044C>T NP_000254.2:p.Arg674Cys More...	01/01/2024	missense variant	pathogenic\|likely pathogenic	Charcot-Marie-Tooth disease axonal type 2V; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2V; MPS 3B; MPS III B; Mucopoly-saccharidosis type 3B; Mucopolysaccharidosis type IIIB (Sanfilippo B); MUCOPOLYSACCHARIDOSIS, TYPE IIIB; N-acetyl-alpha-d-glucosaminidase deficiency; NAGLU DEFICIENCY; none provided; Sanfilippo syndrome B; Toe walking

Disease Annotations Click to see Annotation Detail View

Charcot-Marie-Tooth disease axonal type 2V (IAGP)

mucopolysaccharidosis III (IAGP)

mucopolysaccharidosis type IIIB (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Tip-toe gait (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	NAGLU
Accession:	NM_000263
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	674

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAVAVAAAVGVLLLAGAGGAAGDEAREAAAVRALVARLLGPGPAADFSVSVERALAAKPGLDTYSLGGGGAARVRVRGS TGVAAAAGLHRYLRDFCGCHVAWSGSQLRLPRPLPAVPGELTEATPNRYRYYQNVCTQSYSFVWWDWARWEREIDWMALN GINLALAWSGQEAIWQRVYLALGLTQAEINEFFTGPAFLAWGRMGNLHTWDGPLPPSWHIKQLYLQHRVLDQMRSFGMTP VLPAFAGHVPEAVTRVFPQVNVTKMGSWGHFNCSYSCSFLLAPEDPIFPIIGSLFLRELIKEFGTDHIYGADTFNEMQPP SSEPSYLAAATTAVYEAMTAVDTEAVWLLQGWLFQHQPQFWGPAQIRAVLGAVPRGRLLVLDLFAESQPVYTRTASFQGQ PFIWCMLHNFGGNHGLFGALEAVNGGPEAARLFPNSTMVGTGMAPEGISQNEVVYSLMAELGWRKDPVPDLAAWVTSFAA RRYGVSHPDAGAAWRLLLRSVYNCSGEACRGHNRSPLVRRPSLQMNTSIWYNRSDVFEAWRLLLTSAPSLATSPAFRYDL LDLTRQAVQELVSLYYEEARSAYLSKELASLLRAGGVLAYELLPALDEVLASDSRFLLGSWLEQARAAAVSEAEADFYEQ NSRYQLTLWGPEGNILDYANKQLAGLVANYYTPCWRLFLEALVDSVAQGIPFQQHQFDKNVFQLEQAFVLSKQRYPSQPR GDTVDLAKKIFLKYYPRWVAGSW*

Gene Symbol:	NAGLU
Accession:	XM_017024687
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	397

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFPRLSPDPIFPIIGSLFLRELIKEFGTDHIYGADTFNEMQPPSSEPSYLAAATTAVYEAMTAVDTEAVWLLQGWLFQHQ PQFWGPAQIRAVLGAVPRGRLLVLDLFAESQPVYTRTASFQGQPFIWCMLHNFGGNHGLFGALEAVNGGPEAARLFPNST MVGTGMAPEGISQNEVVYSLMAELGWRKDPVPDLAAWVTSFAARRYGVSHPDAGAAWRLLLRSVYNCSGEACRGHNRSPL VRRPSLQMNTSIWYNRSDVFEAWRLLLTSAPSLATSPAFRYDLLDLTRQAVQELVSLYYEEARSAYLSKELASLLRAGGV LAYELLPALDEVLASDSRFLLGSWLEQARAAAVSEAEADFYEQNSRYQLTLWGPEGNILDYANKQLAGLVANYYTPCWRL FLEALVDSVAQGIPFQQHQFDKNVFQLEQAFVLSKQRYPSQPRGDTVDLAKKIFLKYYPRWVAGSW*

Gene Symbol:	NAGLU
Accession:	XM_024450771
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	693

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAVAVAAAVGVLLLAGAGGAAGDEAREAAAVRALVARLLGPGPAADFSVSVERALAAKPGLDTYSLGGGGAARVRVRGS TGVAAAAGLHRYLRDFCGCHVAWSGSQLRLPRPLPAVPGELTEATPNRASAGPPEKRKEDAYRAVLLYRYYQNVCTQSYS FVWWDWARWEREIDWMALNGINLALAWSGQEAIWQRVYLALGLTQAEINEFFTGPAFLAWGRMGNLHTWDGPLPPSWHIK QLYLQHRVLDQMRSFGMTPVLPAFAGHVPEAVTRVFPQVNVTKMGSWGHFNCSYSCSFLLAPEDPIFPIIGSLFLRELIK EFGTDHIYGADTFNEMQPPSSEPSYLAAATTAVYEAMTAVDTEAVWLLQGWLFQHQPQFWGPAQIRAVLGAVPRGRLLVL DLFAESQPVYTRTASFQGQPFIWCMLHNFGGNHGLFGALEAVNGGPEAARLFPNSTMVGTGMAPEGISQNEVVYSLMAEL GWRKDPVPDLAAWVTSFAARRYGVSHPDAGAAWRLLLRSVYNCSGEACRGHNRSPLVRRPSLQMNTSIWYNRSDVFEAWR LLLTSAPSLATSPAFRYDLLDLTRQAVQELVSLYYEEARSAYLSKELASLLRAGGVLAYELLPALDEVLASDSRFLLGSW LEQARAAAVSEAEADFYEQNSRYQLTLWGPEGNILDYANKQLAGLVANYYTPCWRLFLEALVDSVAQGIPFQQHQFDKNV FQLEQAFVLSKQRYPSQPRGDTVDLAKKIFLKYYPRWVAGSW*

Gene Symbol:	NAGLU
Accession:	XM_047436139
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	341

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFPRLSPVDTEAVWLLQGWLFQHQPQFWGPAQIRAVLGAVPRGRLLVLDLFAESQPVYTRTASFQGQPFIWCMLHNFGGN HGLFGALEAVNGGPEAARLFPNSTMVGTGMAPEGISQNEVVYSLMAELGWRKDPVPDLAAWVTSFAARRYGVSHPDAGAA WRLLLRSVYNCSGEACRGHNRSPLVRRPSLQMNTSIWYNRSDVFEAWRLLLTSAPSLATSPAFRYDLLDLTRQAVQELVS LYYEEARSAYLSKELASLLRAGGVLAYELLPALDEVLASDSRFLLGSWLEQARAAAVSEAEADFYEQNSRYQLTLWGPEG NILDYANKQLAGLVANYYTPCWRLFLEALVDSVAQGIPFQQHQFDKNVFQLEQAFVLSKQRYPSQPRGDTVDLAKKIFLK YYPRWVAGSW*

Gene Symbol:	NAGLU
Accession:	XM_047436138
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	471

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGNLHTWDGPLPPSWHIKQLYLQHRVLDQMRSFGMTPVLPAFAGHVPEAVTRVFPQVNVTKMGSWGHFNCSYSCSFLLAP EDPIFPIIGSLFLRELIKEFGTDHIYGADTFNEMQPPSSEPSYLAAATTAVYEAMTAVDTEAVWLLQGWLFQHQPQFWGP AQIRAVLGAVPRGRLLVLDLFAESQPVYTRTASFQGQPFIWCMLHNFGGNHGLFGALEAVNGGPEAARLFPNSTMVGTGM APEGISQNEVVYSLMAELGWRKDPVPDLAAWVTSFAARRYGVSHPDAGAAWRLLLRSVYNCSGEACRGHNRSPLVRRPSL QMNTSIWYNRSDVFEAWRLLLTSAPSLATSPAFRYDLLDLTRQAVQELVSLYYEEARSAYLSKELASLLRAGGVLAYELL PALDEVLASDSRFLLGSWLEQARAAAVSEAEADFYEQNSRYQLTLWGPEGNILDYANKQLAGLVANYYTPCWRLFLEALV DSVAQGIPFQQHQFDKNVFQLEQAFVLSKQRYPSQPRGDTVDLAKKIFLKYYPRWVAGSW*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:8650226	PMID:9443875	PMID:9950362	PMID:10094189	PMID:20852935	PMID:22976768	PMID:25741868	PMID:28492532	PMID:37091313

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000668435	CLINVAR
	RCV001248721	CLINVAR
	RCV001838091	CLINVAR
	RCV003140063	CLINVAR
dbSNP (RS)	rs763299645	CLINVAR
MedGen	C0086648	CLINVAR
	C0427144	CLINVAR
	C3661900	CLINVAR
NCBI Gene	NAGLU	CLINVAR
OMIM	252920	CLINVAR
	609701	CLINVAR
	616491	CLINVAR
SNOMED CT	59990008	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)

Variant: rs763299645 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: rs763299645 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar