RGD:11545280 Rat Genome Database

Variant: RGD:11545280 - Homo sapiens

RGD ID:

11545280

RS ID:

rs886039177

ClinVar ID:

CV258945

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SMAD3

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	15	67,479,784
GRCh38	15	67,187,446

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_011990.1:g.126590A>G NC_000015.10:g.67187446A>G NC_000015.9:g.67479784A>G NP_005893.1:p.Tyr364Cys More...	11/23/2021	missense variant	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	Thoracic aortic aneurysms and dissections

Disease Annotations Click to see Annotation Detail View

thoracic aortic aneurysm (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SMAD3
Accession:	NM_001145104
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	169

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNHSMDAGSPNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYELNQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLS NVNRNAAVELTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQS VNQGFEAVCQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIRCSSVS*

Gene Symbol:	SMAD3
Accession:	NM_001407016
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	259

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELCEFAFNMKKDEVCVNPYHYQRVETPVLPPVLVPRHTEIPAEFPPLDDYSHSIPENTNFPAGIEPQSNIPETPPPGYL SEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYELNQRVGETFHASQPSMTVDGFTDPSN SERFCLGLLSNVNRNAAVELTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNN QEFAALLAQSVNQGFEAVCQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIRCSSVS *

Gene Symbol:	SMAD3
Accession:	NM_001407013
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	318

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPRSLDGRLQVSHR KGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEVCVNPYHYQRVETPVLPPVLVPRHTEIPAEFPPLDDYSHSI PENTNFPAGIEPQSNIPETPPPGYLSEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYEL NQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVELTRRHIGCNLKIFNNQEFAALLAQSVNQGFEAVCQL TRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIRCSSVS*

Gene Symbol:	SMAD3
Accession:	NM_001145103
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	320

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSCLHPRQTWKGAALVHRKAWWMGRSLDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEVCVNP YHYQRVETPVLPPVLVPRHTEIPAEFPPLDDYSHSIPENTNFPAGIEPQSNIPETPPPGYLSEDGETSDHQMNHSMDAGS PNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYELNQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVE LTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVC QLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIRCSSVS*

Gene Symbol:	SMAD3
Accession:	NM_001145102
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	259

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELCEFAFNMKKDEVCVNPYHYQRVETPVLPPVLVPRHTEIPAEFPPLDDYSHSIPENTNFPAGIEPQSNIPETPPPGYL SEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYELNQRVGETFHASQPSMTVDGFTDPSN SERFCLGLLSNVNRNAAVELTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNN QEFAALLAQSVNQGFEAVCQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIRCSSVS *

Gene Symbol:	SMAD3
Accession:	NM_001407015
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	215

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELCEFAFNMKKDEVCVNPYHYQRVETPETPPPGYLSEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLDLQPVTYCEP AFWCSISYYELNQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVELTRRHIGRGVRLYYIGGEVFAECLS DSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVCQLTRMCTIRMSFVKGWGAEYRRQTV TSTPCWIELHLNGPLQWLDKVLTQMGSPSIRCSSVS*

Gene Symbol:	MADH3
Accession:	NM_005902
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	364

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPRSLDGRLQVSHR KGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEVCVNPYHYQRVETPVLPPVLVPRHTEIPAEFPPLDDYSHSI PENTNFPAGIEPQSNIPETPPPGYLSEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYEL NQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVELTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNC NQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVCQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHL NGPLQWLDKVLTQMGSPSIRCSSVS*

Gene Symbol:	SMAD3
Accession:	NM_001407012
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	320

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPRSLDGRLQVSHR KGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEVCVNPYHYQRVETPETPPPGYLSEDGETSDHQMNHSMDAGS PNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYELNQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVE LTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVC QLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIRCSSVS*

Gene Symbol:	SMAD3
Accession:	NM_001407014
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	315

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWTFAPNCGQSVCPERGSTLSLDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEVCVNPYHYQR VETPVLPPVLVPRHTEIPAEFPPLDDYSHSIPENTNFPAGIEPQSNIPETPPPGYLSEDGETSDHQMNHSMDAGSPNLSP NPMSPAHNNLDLQPVTYCEPAFWCSISYYELNQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVELTRRH IGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVCQLTRM CTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIRCSSVS*

Gene Symbol:	SMAD3
Accession:	NM_001407017
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	169

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNHSMDAGSPNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYELNQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLS NVNRNAAVELTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQS VNQGFEAVCQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIRCSSVS*

Gene Symbol:	SMAD3
Accession:	NM_001407011
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	401

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPRSLDGRLQVSHR KGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEVCVNPYHYQRVETPVLPPVLVPRHTEIPAEFPPLDDYSHSI PENTNFPAGIEPQSNIPETPPPGYLSEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYEL NQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVELTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNC NQRYGWHPATVCKIPPGKAPLSTPSPYFWKPSLQTSPCSGSRSLWASLPSPLAGCNLKIFNNQEFAALLAQSVNQGFEAV CQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIRCSSVS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	320

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPRSLDGRLQVSHR KGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEVCVNPYHYQRVETPETPPPGYLSEDGETSDHQMNHSMDAGS PNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYELNQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVE LTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVC QLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIRCSSVS*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532	PMID:29392890	PMID:30675029

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000766262	CLINVAR
dbSNP (RS)	rs886039177	CLINVAR
MedGen	C4707243	CLINVAR
NCBI Gene	SMAD3	CLINVAR
OMIM	603109	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:11545280 - Homo sapiens

Imported Disease Annotations - ClinVar