PDB ID 1ES7     CHAIN A
Protein name BONE MORPHOGENETIC PROTEIN-2
Uniprot Accession P12643
The number of similar proteins 30
The number of binding states 11
The number of binding partners 7

Coloring

Unicolor (beige)

The number of binding partners

Group

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  7
  6
  5
  4
  3
  2
  1
  0

Sequence information

1   MAQAKHKQRK   RLKSSCKRHP   LYVDFSDVGW   NDWIVAPPGY   HAFYCHGECP   50
51   FPLADHLNST   NHAIVQTLVN   SVNSKIPKAC   CVPTELSAIS   MLYLDENEKV   100
101   VLKNYQDMVV   EGCGCR         150

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(> 0.0001)
Disease name
15_ARG TRP 8.3kJPN
chr14:54417052
rs745803587
- 0.0001 -
18_PRO THR 8.3kJPN
chr20:6759443
rs1455627279
- 0.0001 -
31_TRP TER ClinVar
chr20:6759484
rs1600173481
Likely pathogenic - Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies [MONDO:MONDO:0031439,MedGen:CN294045,OMIM:PS617877]
39_HIS LEU ClinVar
chr20:6759507
-
Pathogenic - Transposition of the great arteries, dextro-looped [MONDO:MONDO:0012128,MedGen:C1837341,OMIM:608808,Orphanet:860]
46_GLU LYS ClinVar
chr20:6759527
-
Pathogenic - Ventricular septal defect 1 [MONDO:MONDO:0013746,MedGen:C3280777,OMIM:614429]
47_CYS TER ClinVar
chr20:6759532
rs1555786156
Likely pathogenic - Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies|Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 [MONDO:MONDO:0031439,MedGen:CN294045,OMIM:PS617877|MONDO:MONDO:0100297,MedGen:C5542952,OMIM:617877]
52_ALA VAL ClinVar
chr14:54416940
rs121912766
Pathogenic - Orofacial cleft 11 [MONDO:MONDO:0010906,MedGen:C2677434,OMIM:600625]
65_THR MET gnomAD
chr20:6759585
rs148745143
- 0.000190929 -
69_SER CYS ClinVar
chr20:6759597
-
Pathogenic - Atrial septal defect 1 [MONDO:MONDO:0007172,MedGen:C1862389,OMIM:108800,Orphanet:1478]
73_SER ILE 8.3kJPN
chr14:54416877
-
- 0.0001 -
74_ILE VAL 8.3kJPN
chr20:6759611
-
- 0.0001 -
79_CYS TYR ClinVar
chr14:54416859
-
Likely pathogenic - Irido-corneo-trabecular dysgenesis [Human Phenotype Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708]
93_ASP GLU 8.3kJPN
chr20:6759670
-
- 0.0001 -
105_ASP GLY VAR_052570 rs11545591
LB/B - -
114_ARG HIS gnomAD
chr20:6759732
rs151019338
- 0.000169598 -
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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.