PRO_ID Object_term Object_syny Modifier Relation Ontology_ID Ontology_term Relative_to Interaction_with Evidence_source Evidence_code Taxon Inferred_from DB_ID Date Assigned_by Comment PR:000000186 TGF-beta receptor type-1 sequence variant T200I (human) hTGFBR1/var:T200I|TGF-beta receptor type-1 sequence variant 1 (human)|UniProtKB:P36897, Thr-200, CHEBI:30009|UniProtKB:P36897-1, Thr-200, CHEBI:30009 associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:15731757 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_022344 20080301 PRO:CNA PR:000000187 TGF-beta receptor type-1 sequence variant 10 (human) hTGFBR1/var:10|TGFBR1*10A has_agent SO:0001605 amino_acid_insertion PMID:9661882 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_022343 20080301 PRO:CNA PR:000000188 TGF-beta receptor type-1 sequence variant 11 (human) hTGFBR1/var:11|TGFBR1*6A (human)|UniProtKB:P36897, 1-23, 27-503|UniProtKB:P36897-1, 1-23, 27-503 acts_upstream_of_or_within GO:0007165 signal transduction PMID:9661882 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_022342 20080301 PRO:CNA PR:000000188 TGF-beta receptor type-1 sequence variant 11 (human) hTGFBR1/var:11|TGFBR1*6A (human)|UniProtKB:P36897, 1-23, 27-503|UniProtKB:P36897-1, 1-23, 27-503 acts_upstream_of_or_within GO:0007179 transforming growth factor beta receptor signaling pathway PMID:9661882 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_022342 20080301 PRO:CNA PR:000000189 TGF-beta receptor type-1 sequence variant K232E (human) hTGFBR1/var:K232E|TGF-beta receptor type-1 sequence variant 2 (human)|UniProtKB:P36897-1, Lys-232, CHEBI:29972 associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:16928994 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_029481 20080301 PRO:CNA PR:000000190 TGF-beta receptor type-1 sequence variant S241L (human) hTGFBR1/var:S241L|TGF-beta receptor type-1 sequence variant 3 (human)|UniProtKB:P36897-1, Ser-241, CHEBI:30006 associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:16596670|PMID:16791849 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_029482 20080301 PRO:CNA PR:000000191 TGF-beta receptor type-1 sequence variant N267H (human) hTGFBR1/var:N267H|TGF-beta receptor type-1 sequence variant 4 (human)|UniProtKB:P36897-1, Asn-267, CHEBI:29979 associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:16791849 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_029483 20080301 PRO:CNA PR:000000192 TGF-beta receptor type-1 sequence variant M318R (human) hTGFBR1/var:M318R|TGF-beta receptor type-1 sequence variant 5 (human)|UniProtKB:P36897-1, Met-318, CHEBI:29952 associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:15731757 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_022345 20080301 PRO:CNA PR:000000193 TGF-beta receptor type-1 sequence variant D400G (human) hTGFBR1/var:D400G|TGF-beta receptor type-1 sequence variant 6 (human)|UniProtKB:P36897-1, Asp-400, CHEBI:29947 associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:15731757 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_022346 20080301 PRO:CNA PR:000000194 TGF-beta receptor type-1 sequence variant R487P (human) hTGFBR1/var:R487P|TGF-beta receptor type-1 sequence variant 7 (human)|UniProtKB:P36897-1, Arg-487, CHEBI:50342 associated_with_disease_progression DOID:14756 vascular type Ehlers-Danlos syndrome PMID:15731757|PMID:16928994 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_022347 20080301 PRO:CNA PR:000000195 TGF-beta receptor type-1 sequence variant R487E (human) hTGFBR1/var:R487E|TGF-beta receptor type-1 sequence variant 8 (human)|UniProtKB:P36897-1, Arg-487, CHEBI:29972 associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:16791849|PMID:16928994 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_029484 20080301 PRO:CNA PR:000000196 TGF-beta receptor type-1 sequence variant R487W (human) hTGFBR1/var:R487W|TGF-beta receptor type-1 sequence variant 9 (human)|UniProtKB:P36897-1, Arg-487, CHEBI:29954 associated_with_disease_progression DOID:14756 vascular type Ehlers-Danlos syndrome PMID:16928994 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_029485 20080301 PRO:CNA PR:000025959 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human) hTGFBR1/iso:1/SigPep-/Phos:1|PRO_0000024423, Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047|UniProtKB:P36897-1, 34-503, Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047 located_in GO:0005886 plasma membrane PMID:8947046 IDA NCBITaxon:9606 UniProtKB:P36897-1 20090309 PRO:CNA PR:000025959 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human) hTGFBR1/iso:1/SigPep-/Phos:1|PRO_0000024423, Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047|UniProtKB:P36897-1, 34-503, Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047 enables GO:0005025 transforming growth factor beta receptor activity, type I PMID:7774578|PMID:8947046 IDA NCBITaxon:9606 UniProtKB:P36897-1 20090309 PRO:CNA PR:000025959 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human) hTGFBR1/iso:1/SigPep-/Phos:1|PRO_0000024423, Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047|UniProtKB:P36897-1, 34-503, Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047 acts_upstream_of_or_within GO:0006468 protein phosphorylation PMID:7774578 IDA NCBITaxon:9606 UniProtKB:P36897-1 20090309 PRO:CNA PR:000025959 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human) hTGFBR1/iso:1/SigPep-/Phos:1|PRO_0000024423, Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047|UniProtKB:P36897-1, 34-503, Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047 acts_upstream_of_or_within GO:0007165 signal transduction PMID:8242743 IDA NCBITaxon:9606 UniProtKB:P36897-1 20090309 PRO:CNA PR:000025959 TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human) hTGFBR1/iso:1/SigPep-/Phos:1|PRO_0000024423, Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047|UniProtKB:P36897-1, 34-503, Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047 acts_upstream_of_or_within GO:0007181 transforming growth factor beta receptor complex assembly PMID:8947046 IDA NCBITaxon:9606 UniProtKB:P36897-1 20090309 PRO:CNA PR:000036432 TGF-beta receptor type-1 isoform 1, signal peptide removed form (human) hTGFBR1/iso:1/SigPep-|UniProtKB:P36897-1, 25-503 located_in GO:0005886 plasma membrane PMID:8242743 TAS NCBITaxon:9606 UniProtKB:P36897-1 20080301 PRO:CNA PR:000036432 TGF-beta receptor type-1 isoform 1, signal peptide removed form (human) hTGFBR1/iso:1/SigPep-|UniProtKB:P36897-1, 25-503 acts_upstream_of_or_within GO:0007165 signal transduction PMID:8242743 TAS NCBITaxon:9606 UniProtKB:P36897-1 20080301 PRO:CNA PR:000036432 TGF-beta receptor type-1 isoform 1, signal peptide removed form (human) hTGFBR1/iso:1/SigPep-|UniProtKB:P36897-1, 25-503 acts_upstream_of_or_within GO:0007181 transforming growth factor beta receptor complex assembly PMID:8242743 TAS NCBITaxon:9606 UniProtKB:P36897-1 20080301 PRO:CNA PR:P36897-1 TGF-beta receptor type-1 isoform 1 (human) hTGFBR1/iso:1 acts_upstream_of_or_within GO:0007165 signal transduction PMID:8242743 TAS NCBITaxon:9606 UniProtKB:P36897-1 20080301 PRO:CNA