PDB ID 2C2H     CHAIN A
Protein name RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 3
Uniprot Accession P60763
The number of similar proteins 60
The number of binding states 21
The number of binding partners 20

Coloring

Unicolor (beige)

The number of binding partners

Group

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  >9
  8
  7
  6
  5
  4
  3
  2
  1
  0

Sequence information

1   MQAIKCVVVG   DGAVGKTCLL   ISYTTNAFPG   EYIPTVFDNY   SANVMVDGKP   50
51   VNLGLWDTAG   QEDYDRLRPL   SYPQTDVFLI   CFSLVSPASF   ENVRAKWYPE   100
101   VRHHCPHTPI   LLVGTKLDLR   DDKDTIERLR   DKKLAPITYP   QGLAMAREIG   150
151   SVKYLECSAL   TQRGLKTVFD   EAIRAVLGPP   PVKKPGKKCT   VF   200

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(> 0.0001)
Disease name
12_GLY ARG ClinVar
chr17:79989671
rs2043431490
Likely pathogenic - Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies [MONDO:MONDO:0032820,MedGen:C5231416,OMIM:618577]
18_CYS TYR ClinVar
chr7:6426860
rs1554263326
Pathogenic - Intellectual disability, autosomal dominant 48|not provided [MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159|MedGen:C3661900]
29_PRO LEU VAR_083040 rs1568018697
LP/P - Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (NEDBAF) [MIM:618577]
29_PRO SER ClinVar
chr7:6426892
rs1057519874
Likely pathogenic - Malignant neoplasm of body of uterus|Squamous cell carcinoma of the head and neck|Melanoma|Malignant melanoma of skin|Squamous cell carcinoma of the skin [MedGen:C0153574|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0002861,Human Phenotype Ontology:HP:0002887,Human Phenotype Ontology:HP:0006777,Human Phenotype Ontology:HP:0007474,MONDO:MONDO:0005105,MeSH:D008545,MedGen:C0025202|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723]
29_PRO LEU ClinVar
chr7:6426893
rs1057519948
Likely pathogenic - Malignant neoplasm of body of uterus|Squamous cell carcinoma of the skin|Squamous cell carcinoma of the head and neck|Malignant melanoma of skin [MedGen:C0153574|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779]
29_PRO THR ClinVar
chr7:6426892
rs1057519874
Likely pathogenic - Squamous cell carcinoma of the head and neck|Malignant melanoma of skin|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the skin [MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MedGen:C0153574|Human Phenotype Ontology:HP:0006739,Human Phenotype Ontology:HP:0007614,MONDO:MONDO:0002529,MedGen:C0553723]
29_PRO LEU ClinVar
chr17:79990313
rs1568018697
Pathogenic; association - Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]; Abnormal brain morphology|Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies [Human Phenotype Ontology:HP:0012443,MedGen:C4021085|MONDO:MONDO:0032820,MedGen:C5231416,OMIM:618577]
29_PRO ARG ClinVar
chr17:79990313
-
Likely pathogenic - Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies [MONDO:MONDO:0032820,MedGen:C5231416,OMIM:618577]
39_ASN SER ClinVar
chr7:6431563
-
Pathogenic/Likely pathogenic - Intellectual disability, autosomal dominant 48|Global developmental delay|Neurodevelopmental delay|not provided [MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159|Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874|Human Phenotype Ontology:HP:0012758,MedGen:C4022738|MedGen:CN517202]
51_VAL MET ClinVar
chr7:6431598
rs1554263625
Pathogenic - Intellectual disability, autosomal dominant 48|not provided [MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159|MedGen:CN517202]
51_VAL LEU ClinVar
chr7:6431598
rs1554263625
Likely pathogenic - Intellectual disability, autosomal dominant 48|Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies [MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159|MONDO:MONDO:0060596,MedGen:C4540327,OMIM:617755,Orphanet:528084]
56_TRP TER ClinVar
chr22:37628899
rs2145824966
Pathogenic - Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia [MONDO:MONDO:0033555,MedGen:C5436550,OMIM:618987]
56_TRP CYS ClinVar
chr7:6431615
rs1783105049
Likely pathogenic - Intellectual disability, autosomal dominant 48 [MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159]
57_ASP ASN ClinVar
chr22:37628897
rs74315507
Pathogenic - Neutrophil immunodeficiency syndrome [MONDO:MONDO:0011988,MedGen:C1842398,OMIM:608203,Orphanet:183707]
59_ALA GLY VAR_083245 rs1379395211
LP/P - Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (NEDBAF) [MIM:618577]
61_GLN LEU VAR_083041 rs1568018920
LP/P - Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (NEDBAF) [MIM:618577]
61_GLN LEU ClinVar
chr17:79990661
rs1568018920
Pathogenic; association - Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]; Abnormal brain morphology|Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies [Human Phenotype Ontology:HP:0012443,MedGen:C4021085|MONDO:MONDO:0032820,MedGen:C5231416,OMIM:618577]
61_GLN LYS ClinVar
chr22:37628885
-
Likely pathogenic - Neutrophil immunodeficiency syndrome [MONDO:MONDO:0011988,MedGen:C1842398,OMIM:608203,Orphanet:183707]
61_GLN GLU ClinVar
chr7:6431628
-
Pathogenic - Intellectual disability, autosomal dominant 48|not provided [MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159|MedGen:CN517202]
62_GLU LYS VAR_083042 rs1064797229
LP/P - Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (NEDBAF) [MIM:618577]
62_GLU LYS ClinVar
chr17:79990663
rs1064797229
Pathogenic - not provided|Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies|See cases [MedGen:C3661900|MONDO:MONDO:0032820,MedGen:C5231416,OMIM:618577|]
62_GLU LYS ClinVar
chr22:37628882
rs1555908409
Pathogenic/Likely pathogenic - Neutrophil immunodeficiency syndrome|6 conditions|not provided|Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia|See cases|Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia [MONDO:MONDO:0011988,MedGen:C1842398,OMIM:608203,Orphanet:183707|6 conditions|MedGen:C3661900|MONDO:MONDO:0033554,MedGen:C5436549,OMIM:618986||MONDO:MONDO:0033554,MedGen:C5436549,OMIM:618986]; Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia [MONDO:MONDO:0033555,MedGen:C5436550,OMIM:618987]; Neutrophil immunodeficiency syndrome [MONDO:MONDO:0011988,MedGen:C1842398,OMIM:608203,Orphanet:183707]
62_GLU LYS ClinVar
chr7:6431631
-
Pathogenic - Intellectual disability, autosomal dominant 48 [MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159]
63_ASP ASN ClinVar
chr17:79990666
rs2043443828
Likely pathogenic - not provided|Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies [MedGen:C3661900|MONDO:MONDO:0032820,MedGen:C5231416,OMIM:618577]
64_TYR ASP ClinVar
chr7:6431637
rs1554263626
Pathogenic - Intellectual disability, autosomal dominant 48|not provided [MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159|MedGen:CN517202]
64_TYR CYS ClinVar
chr17:79990670
rs2043443851
Likely pathogenic - Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies [MONDO:MONDO:0032820,MedGen:C5231416,OMIM:618577]
64_TYR CYS ClinVar
chr7:6431638
rs2115201389
Likely pathogenic - Intellectual disability, autosomal dominant 48 [MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159]
64_TYR HIS ClinVar
chr7:6431637
-
Likely pathogenic - Intellectual disability, autosomal dominant 48 [MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159]
64_TYR TER 8.3kJPN
chr17:79990671
-
- 0.0001 -
68_ARG SER ClinVar
chr7:6431649
-
Pathogenic - Intellectual disability, autosomal dominant 48 [MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159]
68_ARG GLY ClinVar
chr7:6431649
-
Pathogenic - Intellectual disability, autosomal dominant 48 [MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159]
71_SER PHE ClinVar
chr7:6431659
rs2115201430
Pathogenic/Likely pathogenic - Intellectual disability, autosomal dominant 48|not provided [MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159|MedGen:C3661900]
73_PRO LEU ClinVar
chr7:6431665
rs2115201441
Pathogenic/Likely pathogenic - See cases|Intellectual disability, autosomal dominant 48|not provided [|MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159|MedGen:C3661900]
77_VAL ILE 8.3kJPN
chr17:79990826
rs371207908
- 0.0001 -
86_SER ASN 8.3kJPN
chr17:79990854
-
- 0.0001 -
92_ASN THR ClinVar
chr22:37627985
rs1927078072
Pathogenic - Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia [MONDO:MONDO:0033554,MedGen:C5436549,OMIM:618986]
92_ASN LYS ClinVar
chr17:79990873
-
Likely pathogenic - Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies [MONDO:MONDO:0032820,MedGen:C5231416,OMIM:618577]
94_ARG CYS 8.3kJPN
chr7:6439811
-
- 0.0001 -
94_ARG HIS 8.3kJPN
chr7:6439812
-
- 0.0001 -
94_ARG CYS 8.3kJPN
chr22:37627980
rs749761322
- 0.0001 -
99_PRO LEU 8.3kJPN
chr22:37627423
-
- 0.0001 -
114_GLY ARG 8.3kJPN
chr17:79991367
-
- 0.0001 -
116_LYS ASN ClinVar
chr17:79991375
-
Likely pathogenic - RAC3-related disorder [-]
122_ASP ASN 8.3kJPN
chr17:79991391
rs1439910114
- 0.0001 -
126_ILE VAL 8.3kJPN
chr22:37627343
-
- 0.0001 -
128_ARG TRP 8.3kJPN
chr17:79991409
rs550155912
- 0.0001 -
132_LYS GLU ClinVar
chr7:6441604
-
Likely pathogenic - not provided [MedGen:CN517202]
151_SER LEU 8.3kJPN
chr22:37622840
rs147161880
- 0.0001 -
157_CYS TYR ClinVar
chr7:6441968
rs1554264268
Likely pathogenic - Intellectual disability, autosomal dominant 48|not provided [MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159|MedGen:CN517202]
159_ALA THR ClinVar
chr7:6441973
-
Pathogenic - Intellectual disability, autosomal dominant 48 [MONDO:MONDO:0030913,MedGen:C4540321,OMIM:617751,Orphanet:500159]
163_ARG TRP 8.3kJPN
chr17:79991613
rs374643745
- 0.0001 -
165_LEU VAL ClinVar
chr7:6441991
rs2115218501
Likely pathogenic - not provided [MedGen:C3661900]
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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.