PRO Term |
GO Annotation |
Evidence |
PR:000000186 hTGFBR1/var:T200I UniProtKB:P36897, Thr-200, CHEBI:30009 |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:15731757 |
PR:000000187 hTGFBR1/var:10 |
located_in | SO:0001605 amino_acid_insertion |
PMID:9661882 |
PR:000000188 hTGFBR1/var:11 UniProtKB:P36897, 1-23, 27-503 |
acts_upstream_of_or_within | GO:0007165 signal transduction |
PMID:9661882 |
GO:0007179 transforming growth factor beta receptor signaling pathway |
PMID:9661882 |
PR:000000189 hTGFBR1/var:K232E Example: UniProtKB:P36897-1, Lys-232, CHEBI:29972 |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:16928994 |
PR:000000190 hTGFBR1/var:S241L Example: UniProtKB:P36897-1, Ser-241, CHEBI:30006 |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:16596670; PMID:16791849 |
PR:000000191 hTGFBR1/var:N267H Example: UniProtKB:P36897-1, Asn-267, CHEBI:29979 |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:16791849 |
PR:000000192 hTGFBR1/var:M318R Example: UniProtKB:P36897-1, Met-318, CHEBI:29952 |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:15731757 |
PR:000000193 hTGFBR1/var:D400G Example: UniProtKB:P36897-1, Asp-400, CHEBI:29947 |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:15731757 |
PR:000000194 hTGFBR1/var:R487P Example: UniProtKB:P36897-1, Arg-487, CHEBI:50342 |
associated_with_disease_progression | DO:14756 vascular type Ehlers-Danlos syndrome |
PMID:15731757; PMID:16928994 |
PR:000000195 hTGFBR1/var:R487E Example: UniProtKB:P36897-1, Arg-487, CHEBI:29972 |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:16791849; PMID:16928994 |
PR:000000196 hTGFBR1/var:R487W Example: UniProtKB:P36897-1, Arg-487, CHEBI:29954 |
associated_with_disease_progression | DO:14756 vascular type Ehlers-Danlos syndrome |
PMID:16928994 |
PR:000025959 hTGFBR1/iso:1/SigPep-/Phos:1 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 |
GO:0007165 signal transduction |
PMID:8242743 |
GO:0007181 transforming growth factor beta receptor complex assembly |
PMID:8947046 |
enables | GO:0005025 transforming growth factor beta receptor activity, type I |
PMID:7774578; PMID:8947046 |
located_in | GO:0005886 plasma membrane |
PMID:8947046 |
PR:000036432 hTGFBR1/iso:1/SigPep- UniProtKB:P36897-1, 34-503 |
acts_upstream_of_or_within | GO:0007165 signal transduction |
PMID:8242743 |
GO:0007181 transforming growth factor beta receptor complex assembly |
PMID:8242743 |
located_in | GO:0005886 plasma membrane |
PMID:8242743 |
PR:P36897-1 hTGFBR1/iso:1 |
acts_upstream_of_or_within | GO:0007165 signal transduction |
PMID:8242743 |