| PDB ID | 1AJE
|
CHAIN | A |
|---|---|---|---|
| Protein name | CDC42HS | ||
| Uniprot Accession | P60953 | ||
| The number of similar proteins | 58 | ||
| The number of binding states | 25 | ||
| The number of binding partners | 21 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 1AJE (CHAIN: A) | |
| 1 | Monomeric state |
| 2 |
Q96N67
|
| 3 |
Q9H0H5
|
| 4 |
P19803
|
| 5 |
Q9QX73
|
| 6 |
Q64096
|
| 7 |
Q15811
|
| 8 |
Q9NQU5
|
| 9 |
Q06277
|
| 10 |
P60953
|
| 11 |
Q9JK83
|
| 12 |
O30916
|
| 13 |
Q07912
|
| 14 |
O95466
|
| 15 |
P42768
|
| 16 |
1GZS
|
| 17 |
O08808
|
| 18 |
O96013
|
| 19 |
Q9R8E4
|
| 20 |
Q9UQB8
|
| 21 |
P18177
|
| 22 |
P60953
Q06277
|
| 23 |
A0A024RAE4
Q13576
|
| 24 |
O96013
O96013
|
| 25 |
A0A024RAE4
A0A024RAE4
Q13576
Q13576
|
Downdload
Molecule viewer
|
Only interaction residues |
|
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|
Sequence information
|
Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 21_ILE | THR |
ClinVar chr1:22405033 rs1064795845 |
Likely pathogenic | - | 0.9935 | not provided|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|Postnatal growth retardation [MedGen:CN517202|MONDO:MONDO:0014757,MedGen:C4225222,OMIM:616737,Orphanet:487796|Human Phenotype Ontology:HP:0008844,Human Phenotype Ontology:HP:0008865,Human Phenotype Ontology:HP:0008868,Human Phenotype Ontology:HP:0008897,Human Phenotype Ontology:HP:0008901,Human Phenotype Ontology:HP:0008918,MedGen:C1859778]; Abnormal facial shape [Human Phenotype Ontology:HP:0001999,Human Phenotype Ontology:HP:0002004,Human Phenotype Ontology:HP:0002260,Human Phenotype Ontology:HP:0004643,Human Phenotype Ontology:HP:0004649,Human Phenotype Ontology:HP:0004652,Human Phenotype Ontology:HP:0004655,Human Phenotype Ontology:HP:0004675,Human Phenotype Ontology:HP:0005124,MedGen:C0424503]; Neurodevelopmental abnormality [Human Phenotype Ontology:HP:0012759,MedGen:C4022737]; Abnormality of blood and blood-forming tissues [Human Phenotype Ontology:HP:0001871,Human Phenotype Ontology:HP:0003135,MedGen:C0850715]; Abnormality of the immune system [Human Phenotype Ontology:HP:0002715,Human Phenotype Ontology:HP:0003257,Human Phenotype Ontology:HP:0003346,Human Phenotype Ontology:HP:0010986,MedGen:C4021753] | |
| 23_TYR | CYS |
ClinVar chr1:22405039 rs797044916 |
Pathogenic | - | 0.9863 | Inborn genetic diseases|not provided|Neurodevelopmental abnormality [MeSH:D030342,MedGen:C0950123|MedGen:C3661900|Human Phenotype Ontology:HP:0012759,MedGen:C4022737]; Abnormality of the immune system [Human Phenotype Ontology:HP:0002715,Human Phenotype Ontology:HP:0003257,Human Phenotype Ontology:HP:0003346,Human Phenotype Ontology:HP:0010986,MedGen:C4021753]; Abnormality of blood and blood-forming tissues [Human Phenotype Ontology:HP:0001871,Human Phenotype Ontology:HP:0003135,MedGen:C0850715]; Abnormal facial shape [Human Phenotype Ontology:HP:0001999,Human Phenotype Ontology:HP:0002004,Human Phenotype Ontology:HP:0002260,Human Phenotype Ontology:HP:0004643,Human Phenotype Ontology:HP:0004649,Human Phenotype Ontology:HP:0004652,Human Phenotype Ontology:HP:0004655,Human Phenotype Ontology:HP:0004675,Human Phenotype Ontology:HP:0005124,MedGen:C0424503]; Postnatal growth retardation|Neurodevelopmental disorder|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome [Human Phenotype Ontology:HP:0008844,Human Phenotype Ontology:HP:0008865,Human Phenotype Ontology:HP:0008868,Human Phenotype Ontology:HP:0008897,Human Phenotype Ontology:HP:0008901,Human Phenotype Ontology:HP:0008918,MedGen:C1859778|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926|MONDO:MONDO:0014757,MedGen:C4225222,OMIM:616737,Orphanet:487796] | |
| 23_TYR | ASN |
ClinVar chr1:22405038 rs1645575312 |
Likely pathogenic | - | 0.9956 | not provided [MedGen:CN517202] | |
| 24_THR | PRO |
ClinVar chr1:22405041 rs2124005167 |
Likely pathogenic | - | 0.9852 | not provided [MedGen:C3661900] | |
| 42_VAL | ILE |
ClinVar chr1:22408233 rs1057518022 |
Likely pathogenic | - | 0.6095 | not provided [MedGen:C3661900] | |
| 46_ILE | THR |
ClinVar chr1:22408246 rs1570024112 |
Likely pathogenic | - | 0.843 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome [MONDO:MONDO:0014757,MedGen:C4225222,OMIM:616737,Orphanet:487796] | |
| 64_TYR | CYS |
VAR_076337
rs864309721 |
LP/P | - | 0.9953 | Takenouchi-Kosaki syndrome (TKS) [MIM:616737] | |
| 64_TYR | CYS |
ClinVar chr1:22412944 rs864309721 |
Pathogenic/Likely pathogenic | - | 0.9953 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|not provided|Inborn genetic diseases|Neurodevelopmental abnormality [MONDO:MONDO:0014757,MedGen:C4225222,OMIM:616737,Orphanet:487796|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|Human Phenotype Ontology:HP:0012759,MedGen:C4022737]; Abnormality of blood and blood-forming tissues [Human Phenotype Ontology:HP:0001871,Human Phenotype Ontology:HP:0003135,MedGen:C0850715]; Abnormality of the immune system [Human Phenotype Ontology:HP:0002715,Human Phenotype Ontology:HP:0003257,Human Phenotype Ontology:HP:0003346,Human Phenotype Ontology:HP:0010986,MedGen:C4021753]; Postnatal growth retardation [Human Phenotype Ontology:HP:0008844,Human Phenotype Ontology:HP:0008865,Human Phenotype Ontology:HP:0008868,Human Phenotype Ontology:HP:0008897,Human Phenotype Ontology:HP:0008901,Human Phenotype Ontology:HP:0008918,MedGen:C1859778]; Abnormal facial shape [Human Phenotype Ontology:HP:0001999,Human Phenotype Ontology:HP:0002004,Human Phenotype Ontology:HP:0002260,Human Phenotype Ontology:HP:0004643,Human Phenotype Ontology:HP:0004649,Human Phenotype Ontology:HP:0004652,Human Phenotype Ontology:HP:0004655,Human Phenotype Ontology:HP:0004675,Human Phenotype Ontology:HP:0005124,MedGen:C0424503] | |
| 66_ARG | GLY |
ClinVar chr1:22412949 rs797044870 |
Pathogenic | - | 0.9936 | Inborn genetic diseases|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|Neurodevelopmental abnormality [MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014757,MedGen:C4225222,OMIM:616737,Orphanet:487796|Human Phenotype Ontology:HP:0012759,MedGen:C4022737]; Postnatal growth retardation [Human Phenotype Ontology:HP:0008844,Human Phenotype Ontology:HP:0008865,Human Phenotype Ontology:HP:0008868,Human Phenotype Ontology:HP:0008897,Human Phenotype Ontology:HP:0008901,Human Phenotype Ontology:HP:0008918,MedGen:C1859778]; Abnormality of the immune system [Human Phenotype Ontology:HP:0002715,Human Phenotype Ontology:HP:0003257,Human Phenotype Ontology:HP:0003346,Human Phenotype Ontology:HP:0010986,MedGen:C4021753]; Abnormality of blood and blood-forming tissues [Human Phenotype Ontology:HP:0001871,Human Phenotype Ontology:HP:0003135,MedGen:C0850715]; Abnormal facial shape [Human Phenotype Ontology:HP:0001999,Human Phenotype Ontology:HP:0002004,Human Phenotype Ontology:HP:0002260,Human Phenotype Ontology:HP:0004643,Human Phenotype Ontology:HP:0004649,Human Phenotype Ontology:HP:0004652,Human Phenotype Ontology:HP:0004655,Human Phenotype Ontology:HP:0004675,Human Phenotype Ontology:HP:0005124,MedGen:C0424503] | |
| 68_ARG | GLN |
ClinVar chr1:22412956 rs1553196096 |
Pathogenic/Likely pathogenic | - | 0.9973 | not provided|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|Abnormality of blood and blood-forming tissues [MedGen:C3661900|MONDO:MONDO:0014757,MedGen:C4225222,OMIM:616737,Orphanet:487796|Human Phenotype Ontology:HP:0001871,Human Phenotype Ontology:HP:0003135,MedGen:C0850715]; Neurodevelopmental abnormality [Human Phenotype Ontology:HP:0012759,MedGen:C4022737]; Postnatal growth retardation [Human Phenotype Ontology:HP:0008844,Human Phenotype Ontology:HP:0008865,Human Phenotype Ontology:HP:0008868,Human Phenotype Ontology:HP:0008897,Human Phenotype Ontology:HP:0008901,Human Phenotype Ontology:HP:0008918,MedGen:C1859778]; Abnormality of the immune system [Human Phenotype Ontology:HP:0002715,Human Phenotype Ontology:HP:0003257,Human Phenotype Ontology:HP:0003346,Human Phenotype Ontology:HP:0010986,MedGen:C4021753]; Abnormal facial shape [Human Phenotype Ontology:HP:0001999,Human Phenotype Ontology:HP:0002004,Human Phenotype Ontology:HP:0002260,Human Phenotype Ontology:HP:0004643,Human Phenotype Ontology:HP:0004649,Human Phenotype Ontology:HP:0004652,Human Phenotype Ontology:HP:0004655,Human Phenotype Ontology:HP:0004675,Human Phenotype Ontology:HP:0005124,MedGen:C0424503] | |
| 76_ASP | VAL |
ClinVar chr1:22412980 - |
Likely pathogenic | - | 0.9947 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome [MONDO:MONDO:0014757,MedGen:C4225222,OMIM:616737,Orphanet:487796] | |
| 81_CYS | PHE |
ClinVar chr1:22412995 rs1553196100 |
Likely pathogenic | - | 0.9962 | not provided|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|Postnatal growth retardation [MedGen:CN517202|MONDO:MONDO:0014757,MedGen:C4225222,OMIM:616737,Orphanet:487796|Human Phenotype Ontology:HP:0008844,Human Phenotype Ontology:HP:0008865,Human Phenotype Ontology:HP:0008868,Human Phenotype Ontology:HP:0008897,Human Phenotype Ontology:HP:0008901,Human Phenotype Ontology:HP:0008918,MedGen:C1859778]; Abnormal facial shape [Human Phenotype Ontology:HP:0001999,Human Phenotype Ontology:HP:0002004,Human Phenotype Ontology:HP:0002260,Human Phenotype Ontology:HP:0004643,Human Phenotype Ontology:HP:0004649,Human Phenotype Ontology:HP:0004652,Human Phenotype Ontology:HP:0004655,Human Phenotype Ontology:HP:0004675,Human Phenotype Ontology:HP:0005124,MedGen:C0424503]; Neurodevelopmental abnormality [Human Phenotype Ontology:HP:0012759,MedGen:C4022737]; Abnormality of blood and blood-forming tissues [Human Phenotype Ontology:HP:0001871,Human Phenotype Ontology:HP:0003135,MedGen:C0850715]; Abnormality of the immune system [Human Phenotype Ontology:HP:0002715,Human Phenotype Ontology:HP:0003257,Human Phenotype Ontology:HP:0003346,Human Phenotype Ontology:HP:0010986,MedGen:C4021753] | |
| 83_SER | PRO |
ClinVar chr1:22413000 rs1553196101 |
Pathogenic | - | 0.9973 | not provided|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|Abnormal facial shape [MedGen:C3661900|MONDO:MONDO:0014757,MedGen:C4225222,OMIM:616737,Orphanet:487796|Human Phenotype Ontology:HP:0001999,Human Phenotype Ontology:HP:0002004,Human Phenotype Ontology:HP:0002260,Human Phenotype Ontology:HP:0004643,Human Phenotype Ontology:HP:0004649,Human Phenotype Ontology:HP:0004652,Human Phenotype Ontology:HP:0004655,Human Phenotype Ontology:HP:0004675,Human Phenotype Ontology:HP:0005124,MedGen:C0424503]; Abnormality of blood and blood-forming tissues [Human Phenotype Ontology:HP:0001871,Human Phenotype Ontology:HP:0003135,MedGen:C0850715]; Abnormality of the immune system [Human Phenotype Ontology:HP:0002715,Human Phenotype Ontology:HP:0003257,Human Phenotype Ontology:HP:0003346,Human Phenotype Ontology:HP:0010986,MedGen:C4021753]; Neurodevelopmental abnormality [Human Phenotype Ontology:HP:0012759,MedGen:C4022737]; Postnatal growth retardation [Human Phenotype Ontology:HP:0008844,Human Phenotype Ontology:HP:0008865,Human Phenotype Ontology:HP:0008868,Human Phenotype Ontology:HP:0008897,Human Phenotype Ontology:HP:0008901,Human Phenotype Ontology:HP:0008918,MedGen:C1859778] | |
| 116_GLN | GLU |
ClinVar chr1:22413219 rs1553196119 |
Likely pathogenic | - | 0.9097 | not provided [MedGen:CN517202] | |
| 159_ALA | VAL |
ClinVar chr1:22413349 rs1553196134 |
Pathogenic | - | 0.992 | not provided|Abnormal facial shape [MedGen:C3661900|Human Phenotype Ontology:HP:0001999,Human Phenotype Ontology:HP:0002004,Human Phenotype Ontology:HP:0002260,Human Phenotype Ontology:HP:0004643,Human Phenotype Ontology:HP:0004649,Human Phenotype Ontology:HP:0004652,Human Phenotype Ontology:HP:0004655,Human Phenotype Ontology:HP:0004675,Human Phenotype Ontology:HP:0005124,MedGen:C0424503]; Abnormality of blood and blood-forming tissues [Human Phenotype Ontology:HP:0001871,Human Phenotype Ontology:HP:0003135,MedGen:C0850715]; Abnormality of the immune system [Human Phenotype Ontology:HP:0002715,Human Phenotype Ontology:HP:0003257,Human Phenotype Ontology:HP:0003346,Human Phenotype Ontology:HP:0010986,MedGen:C4021753]; Postnatal growth retardation [Human Phenotype Ontology:HP:0008844,Human Phenotype Ontology:HP:0008865,Human Phenotype Ontology:HP:0008868,Human Phenotype Ontology:HP:0008897,Human Phenotype Ontology:HP:0008901,Human Phenotype Ontology:HP:0008918,MedGen:C1859778]; Neurodevelopmental abnormality [Human Phenotype Ontology:HP:0012759,MedGen:C4022737] | |
| 170_ASP | GLY |
ClinVar chr1:22417943 rs2124053783 |
Likely pathogenic | - | 0.9855 | See cases [-] | |
| 171_GLU | LYS |
ClinVar chr1:22417945 rs1553196539 |
Pathogenic | - | 0.9278 | Noonan-like syndrome|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|Abnormal facial shape [MedGen:C1834120|MONDO:MONDO:0014757,MedGen:C4225222,OMIM:616737,Orphanet:487796|Human Phenotype Ontology:HP:0001999,Human Phenotype Ontology:HP:0002004,Human Phenotype Ontology:HP:0002260,Human Phenotype Ontology:HP:0004643,Human Phenotype Ontology:HP:0004649,Human Phenotype Ontology:HP:0004652,Human Phenotype Ontology:HP:0004655,Human Phenotype Ontology:HP:0004675,Human Phenotype Ontology:HP:0005124,MedGen:C0424503]; Abnormality of blood and blood-forming tissues [Human Phenotype Ontology:HP:0001871,Human Phenotype Ontology:HP:0003135,MedGen:C0850715]; Abnormality of the immune system [Human Phenotype Ontology:HP:0002715,Human Phenotype Ontology:HP:0003257,Human Phenotype Ontology:HP:0003346,Human Phenotype Ontology:HP:0010986,MedGen:C4021753]; Neurodevelopmental abnormality [Human Phenotype Ontology:HP:0012759,MedGen:C4022737]; Postnatal growth retardation [Human Phenotype Ontology:HP:0008844,Human Phenotype Ontology:HP:0008865,Human Phenotype Ontology:HP:0008868,Human Phenotype Ontology:HP:0008897,Human Phenotype Ontology:HP:0008901,Human Phenotype Ontology:HP:0008918,MedGen:C1859778] | |
| 180_PRO | LEU |
8.3kJPN chr1:22416488 rs778438477 |
- | 0.0001 | 0.2454 | - | |
| 186_ARG | CYS |
ClinVar chr1:22417990 - |
Pathogenic | - | 0.2711 | not provided [MedGen:C3661900] |