RGD:9832541 Rat Genome Database

Variant: RGD:9832541 - Homo sapiens

RGD ID:

9832541

RS ID:

rs730880223

ClinVar ID:

CV178600

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

TGFBR1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	9	101,911,519
GRCh38	9	99,149,237

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_007461.1:g.49108A>G NC_000009.12:g.99149237A>G NC_000009.11:g.101911519A>G NP_004603.1:p.Arg482Gly More...	07/05/2022	missense variant	pathogenic\|likely pathogenic	Thoracic aortic aneurysms and dissections

Disease Annotations Click to see Annotation Detail View

Loeys-Dietz syndrome (IAGP)

thoracic aortic aneurysm (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	TGFBR1
Accession:	NM_001407423
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	413

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001306210
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	486

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCIAEIDLIPR DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHH RVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSS REERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHL HMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESF KRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWY ANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407437
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	246

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHL HMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESF KRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWY ANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407426
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	413

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	413

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407424
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	413

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407419
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	417

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMV YICHNRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWR GEEVAVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKL ALSTASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLD DSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALR VMAKIMRECWYANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_004612
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	482

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCIAEIDLIPR DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHHRVPN EEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSSREER SWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHLHMEI VGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESFKRAD IYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWYANGA AGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407428
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	413

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407420
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	417

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMV YICHNRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWR GEEVAVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKL ALSTASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLD DSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALR VMAKIMRECWYANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407435
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	405

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCIAEIDLIPR DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHHRVPN EEDPSLDRPFISEGTTLKDLIYDMTTSGSGSDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHLH MEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESFK RADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWYA NGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	XM_011518948
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	417

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMV YICHNRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWR GEEVAVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKL ALSTASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLD DSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALR VMAKIMRECWYANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407433
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	413

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407422
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	417

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMV YICHNRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWR GEEVAVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKL ALSTASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLD DSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALR VMAKIMRECWYANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407429
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	413

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407416
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	430

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCIAEIDLIPR DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHH RVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSS REERSWFREAEIYQTVMLRHENILGFIAADNKGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHR VGTKRYMAPEVLDDSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRP NIPNRWQSCEALRVMAKIMRECWYANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407432
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	413

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407438
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	323

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSSREE RSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHLHME IVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESFKRA DIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWYANG AAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407427
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	413

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407425
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	413

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407434
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	413

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407436
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	400

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHHRVPNEE DPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSSREERSW FREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHLHMEIVG TQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESFKRADIY AMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWYANGAAG LTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001130916
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	405

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCIAEIDLIPR DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSSR EERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHLH MEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESFK RADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWYA NGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407417
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	426

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCIAEIDLIPR DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHHRVPN EEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSSREER SWFREAEIYQTVMLRHENILGFIAADNKGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTK RYMAPEVLDDSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPN RWQSCEALRVMAKIMRECWYANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407418
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	417

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMV YICHNRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWR GEEVAVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKL ALSTASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLD DSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALR VMAKIMRECWYANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407430
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	413

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAAGLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NR_176363
Location:	EXON;NON-CODING

Gene Symbol:	TGFBR1
Accession:	NR_176361
Location:	EXON;NON-CODING

Gene Symbol:	TGFBR1
Accession:	NR_176362
Location:	EXON;NON-CODING

Gene Symbol:	TGFBR1
Accession:	NR_176360
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	RCV000157517	CLINVAR
	RCV002516367	CLINVAR
dbSNP (RS)	rs730880223	CLINVAR
MedGen	C2697932	CLINVAR
	C4707243	CLINVAR
NCBI Gene	TGFBR1	CLINVAR
OMIM	190181	CLINVAR
SNOMED CT	446263001	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:9832541 - Homo sapiens

Imported Disease Annotations - ClinVar