PDB ID 5FFO     CHAIN C
Protein name Transforming growth factor beta-1
Uniprot Accession P01137
The number of similar proteins 11
The number of binding states 6
The number of binding partners 5

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
5FFO (CHAIN: C)
1 P01137   P06756  
2 Monomeric state
3 P07200  
4 P01137   P18564   P06756  
5 P01137   8UDZ   8UDZ   8UDZ  
6 P01137   9VJJ   9VJJ   9VJJ   9VJJ  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  4
  3
  2
  1
  0

Sequence information

1   GPLSTSKTID   MELVKRKRIE   AIRGQILSKL   RLASPPSQGE   VPPGPLPEAV   50
51   LALYNSTRDR   VAGESAEPEP   EPEADYYAKE   VTRVLMVETH   NEIYDKFKQS   100
101   THSIYMFFQT   SELREAVPEP   VLLSRAELRL   LRLKLKVEQH   VELYQKYSQN   150
151   SWRYLSNRLL   APSDSPEWLS   FDVTGVVRQW   LSRGGEIEGF   RLSAHCSCDS   200
201   RDNTLQVDIN   GFTTGRRGDL   ATIHGMNRPF   LLLMATPLER   AQHLQSSRHR   250
251   RALDTNYCFS   STEKNCCVRQ   LYIDFRKDLG   WKWIHEPKGY   HANFCLGPCP   300
301   YIWSLDTQYS   KVLALYNQHN   PGASAAPCCV   PQALEPLPIV   YYVGRKPKVE   350
351   QLSNMIVRSC   KCS         400

Variants

Residue AA Source /
dbSNP		 Clinical
Significance
 Allele
Frequency
(> 0.0001)		 AlphaMissense
pathogenicity		 Disease name
12_VAL MET 8.3kJPN
chr19:41858829
-
- 0.0002 0.434 -
16_ARG CYS VAR_081584
rs1555755308
LP/P - 0.9977 Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) [MIM:618213]
16_ARG CYS ClinVar
chr19:41858817
rs1555755308
Likely pathogenic - 0.9977 Encephalopathy [Human Phenotype Ontology:HP:0001298,MedGen:C0085584]; IL10-related early-onset inflammatory bowel disease|Inflammatory bowel disease, immunodeficiency, and encephalopathy [MONDO:MONDO:0016542,MedGen:C4749850,Orphanet:238569|MONDO:MONDO:0032601,MedGen:C4748708,OMIM:618213,Orphanet:565788]
41_PRO LEU 8.3kJPN
chr19:41858741
-
- 0.0001 0.1322 -
52_TYR HIS VAR_017607
rs111033611
LP/P - 0.982 Camurati-Engelmann disease (CAEND) [MIM:131300]
52_TYR HIS ClinVar
chr19:41858709
rs111033611
Pathogenic - 0.982 Diaphyseal dysplasia [Human Phenotype Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:PS131300,Orphanet:1328]
55_THR SER 8.3kJPN
chr19:41858700
-
- 0.0001 0.8047 -
81_ARG CYS VAR_081585
rs1555755242
LP/P - 0.8495 Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) [MIM:618213]
81_ARG CYS ClinVar
chr19:41858622
rs1555755242
Likely pathogenic - 0.8495 Inflammatory bowel disease, immunodeficiency, and encephalopathy|Encephalopathy [MONDO:MONDO:0032601,MedGen:C4748708,OMIM:618213,Orphanet:565788|Human Phenotype Ontology:HP:0001298,MedGen:C0085584]; IL10-related early-onset inflammatory bowel disease [MONDO:MONDO:0016542,MedGen:C4749850,Orphanet:238569]
84_MET THR gnomAD
chr19:41858612
rs562072561
- 0.000125512 0.187 -
91_ILE THR 8.3kJPN
chr19:41854357
-
- 0.0001 0.1423 -
108_THR ILE 8.3kJPN
chr19:41854306
-
- 0.0001 0.2524 -
114_ALA VAL 8.3kJPN
chr19:41854288
rs774002594
- 0.0001 0.1301 -
123_ARG GLN gnomAD
chr19:41854261
rs765327656
- 0.000167052 0.1205 -
123_ARG TRP 8.3kJPN
chr19:41854262
rs201405597
- 0.0001 0.2328 -
142_TYR CYS ClinVar
chr19:41854204
rs1599893542
Likely pathogenic - 0.9369 Diaphyseal dysplasia [Human Phenotype Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:PS131300,Orphanet:1328]
156_ARG TRP gnomAD
chr19:41850733
rs201055697
- 0.000110882 0.184 -
171_VAL ILE 8.3kJPN
chr19:41850688
rs539765936
- 0.0001 0.1452 -
175_VAL MET 8.3kJPN
chr19:41850676
-
- 0.0001 0.5269 -
176_ARG TRP 8.3kJPN
chr19:41850673
rs199882566
- 0.0011 0.1607 -
188_PHE LEU 8.3kJPN
chr19:41848138
rs141352462
- 0.0001 0.9319 -
189_ARG CYS VAR_017608
rs104894721
LP/P - 0.5449 Camurati-Engelmann disease (CAEND) [MIM:131300]
189_ARG HIS VAR_017609
rs104894720
LP/P - 0.2801 Camurati-Engelmann disease (CAEND) [MIM:131300]
189_ARG HIS ClinVar
chr19:41848134
rs104894720
Pathogenic/Likely pathogenic - 0.2801 Diaphyseal dysplasia|not provided|Inborn genetic diseases|Camurati-Engelmann disease type 1 [Human Phenotype Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:PS131300,Orphanet:1328|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0700385,MedGen:CN379925,OMIM:131300]
189_ARG CYS ClinVar
chr19:41848135
rs104894721
Pathogenic - 0.5449 Diaphyseal dysplasia|not provided|See cases [Human Phenotype Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:PS131300,Orphanet:1328|MedGen:C3661900|]
190_LEU ILE 8.3kJPN
chr19:41848132
-
- 0.0001 0.1171 -
193_HIS ASP VAR_017610
rs281865485
LP/P - 0.8304 Camurati-Engelmann disease (CAEND) [MIM:131300]
194_CYS GLY VAR_067303
rs104894722
LP/P - 0.839 Camurati-Engelmann disease (CAEND) [MIM:131300]
194_CYS ARG VAR_067304
rs104894722
LP/P - 0.9439 Camurati-Engelmann disease (CAEND) [MIM:131300]
194_CYS ARG ClinVar
chr19:41848120
rs104894722
Pathogenic - 0.9439 Diaphyseal dysplasia [Human Phenotype Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:PS131300,Orphanet:1328]
196_CYS ARG VAR_017611
rs104894719
LP/P - 0.9698 Camurati-Engelmann disease (CAEND) [MIM:131300]
196_CYS ARG ClinVar
chr19:41848114
rs104894719
Pathogenic - 0.9698 Diaphyseal dysplasia [Human Phenotype Ontology:HP:0100252,MONDO:MONDO:0007542,MedGen:C0011989,OMIM:PS131300,Orphanet:1328]
226_ARG GLN 8.3kJPN
chr19:41847884
rs149900977
- 0.0001 0.1042 -
234_THR ILE VAR_016173
rs1800472
LB/B - 0.3182 -
234_THR ILE gnomAD
chr19:41847860
rs1800472
- 0.0259133 0.3182 -
234_THR PRO 8.3kJPN
chr19:41847861
-
- 0.0003 0.2289 -
252_ASP HIS 8.3kJPN
chr19:41847807
-
- 0.0001 0.7645 -
259_SER PHE 8.3kJPN
chr19:41838184
-
- 0.0001 0.3595 -
267_ARG GLN gnomAD
chr19:41838160
rs200164212
- 0.00041832 0.2626 -
267_ARG GLN 8.3kJPN
chr19:41838160
rs200164212
- 0.0001 0.2626 -
270_TYR TER ClinVar
chr19:41838150
rs1057521741
Likely pathogenic - - not provided [MedGen:CN517202]
278_GLY SER 8.3kJPN
chr19:41838128
-
- 0.0001 0.4519 -
324_ALA VAL 8.3kJPN
chr19:41837072
-
- 0.0002 0.2942 -
356_ARG GLY 8.3kJPN
chr19:41836977
rs981119783
- 0.0001 0.4536 -
358_CYS ARG VAR_081586
rs1336387628
LP/P - 0.9992 Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) [MIM:618213]
358_CYS ARG ClinVar
chr19:41836971
rs1336387628
Likely pathogenic - 0.9992 Encephalopathy [Human Phenotype Ontology:HP:0001298,MedGen:C0085584]; IL10-related early-onset inflammatory bowel disease|Inflammatory bowel disease, immunodeficiency, and encephalopathy [MONDO:MONDO:0016542,MedGen:C4749850,Orphanet:238569|MONDO:MONDO:0032601,MedGen:C4748708,OMIM:618213,Orphanet:565788]
359_LYS ASN 8.3kJPN
chr19:41836966
rs943475580
- 0.0002 0.9676 -
(Powered by wupsivus)

Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.