PRO Term |
GO Annotation |
Evidence |
PR:000000189
hTGFBR1/var:K232E
Lys-232, CHEBI:29972
|
associated_with_disease_progression |
DOID:0050466 Loeys-Dietz syndrome
|
PMID:16928994 |
PR:000000191
hTGFBR1/var:N267H
Asn-267, CHEBI:29979
|
associated_with_disease_progression |
DOID:0050466 Loeys-Dietz syndrome
|
PMID:16791849 |
PR:000025959
hTGFBR1/iso:1/SigPep-/Phos:1
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 |
acts_upstream_of_or_within |
GO:0007181 transforming growth factor beta receptor complex assembly
|
PMID:8947046 |
acts_upstream_of_or_within |
GO:0007165 signal transduction
|
PMID:8242743 |
enables |
GO:0005025 transforming growth factor beta receptor activity, type I
|
PMID:7774578, PMID:8947046 |
located_in |
GO:0005886 plasma membrane
|
PMID:8947046 |
PR:P36897-1
hTGFBR1/iso:1
|
acts_upstream_of_or_within |
GO:0007165 signal transduction
|
PMID:8242743 |
PR:000000188
hTGFBR1/var:11
|
acts_upstream_of_or_within |
GO:0007179 transforming growth factor beta receptor signaling pathway
|
PMID:9661882 |
acts_upstream_of_or_within |
GO:0007165 signal transduction
|
PMID:9661882 |
PR:000036432
hTGFBR1/iso:1/SigPep-
|
acts_upstream_of_or_within |
GO:0007181 transforming growth factor beta receptor complex assembly
|
PMID:8242743 |
acts_upstream_of_or_within |
GO:0007165 signal transduction
|
PMID:8242743 |
located_in |
GO:0005886 plasma membrane
|
PMID:8242743 |
PR:000036434
mTGFBR1/iso:1/SigPep-/Phos:1
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:12065756 |
PR:000000190
hTGFBR1/var:S241L
Ser-241, CHEBI:30006
|
associated_with_disease_progression |
DOID:0050466 Loeys-Dietz syndrome
|
PMID:16596670, PMID:16791849 |
PR:000000196
hTGFBR1/var:R487W
Arg-487, CHEBI:29954
|
associated_with_disease_progression |
DOID:14756 vascular type Ehlers-Danlos syndrome
|
PMID:16928994 |
PR:000000194
hTGFBR1/var:R487P
Arg-487, CHEBI:50342
|
associated_with_disease_progression |
DOID:14756 vascular type Ehlers-Danlos syndrome
|
PMID:15731757, PMID:16928994 |
PR:000000195
hTGFBR1/var:R487E
Arg-487, CHEBI:29972
|
associated_with_disease_progression |
DOID:0050466 Loeys-Dietz syndrome
|
PMID:16791849, PMID:16928994 |
PR:000000192
hTGFBR1/var:M318R
Met-318, CHEBI:29952
|
associated_with_disease_progression |
DOID:0050466 Loeys-Dietz syndrome
|
PMID:15731757 |
PR:000000193
hTGFBR1/var:D400G
Asp-400, CHEBI:29947
|
associated_with_disease_progression |
DOID:0050466 Loeys-Dietz syndrome
|
PMID:15731757 |
PR:000000187
hTGFBR1/var:10
|
has_agent |
SO:0001605 amino_acid_insertion
|
PMID:9661882 |
PR:000000186
hTGFBR1/var:T200I
Thr-200, CHEBI:30009
|
associated_with_disease_progression |
DOID:0050466 Loeys-Dietz syndrome
|
PMID:15731757 |
|