PDB ID | 1HH4 | CHAIN | A |
---|---|---|---|
Protein name | RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1 | ||
Uniprot Accession | P15154 | ||
The number of similar proteins | 63 | ||
The number of binding states | 22 | ||
The number of binding partners | 21 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1HH4 (CHAIN: A) | |
1 | P52565 |
2 | Monomeric state |
3 | Q8TCU6 |
4 | P19878 |
5 | Q16512 |
6 | P74873 |
7 | Q05608 |
8 | P27870 |
9 | Q8N1W1 |
10 | Q92608 |
11 | B3CVM3 |
12 | O43157 |
13 | Q8BZN6 |
14 | Q51451 |
15 | O60229 |
16 | Q00722 |
17 | Q60610 |
18 | Q9NUQ9 |
19 | O96013 |
20 | 2W2X |
21 | P53365 P53365 |
22 | P63000 P63000 |
Only interaction residues |
|
||||||||||||||||||||||
|
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 | 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] | |
34_PRO | HIS |
ClinVar chr22:37637633 |
rs1927393826
|
Pathogenic | - | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia [MONDO:MONDO:0033554,MedGen:C5436549,OMIM:618986] | |
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] | |
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 |
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] | |
182_THR | MET |
gnomAD chr22:37622747 |
rs141308774
|
- | 0.000120048 | - | |
184_LYS | GLN |
8.3kJPN chr17:79991676 |
-
|
- | 0.0001 | - |