PDB ID | 2J05 | CHAIN | A |
---|---|---|---|
Protein name | RAS GTPASE-ACTIVATING PROTEIN 1 | ||
PDB | 2J05 | ||
The number of similar proteins | 8 | ||
The number of binding states | 3 | ||
The number of binding partners | 2 |
Unicolor (beige)
The number of binding partners
Group
Only interaction residues |
|
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|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
281_ARG | TER |
ClinVar chr5:86629096 |
-
|
Pathogenic | - | Capillary malformation-arteriovenous malformation syndrome [MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667] | |
285_ARG | TER |
ClinVar chr5:86629108 |
rs137853218
|
Pathogenic | - | Capillary malformation-arteriovenous malformation 1|Capillary malformation-arteriovenous malformation syndrome|Vascular malformation [MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667,Orphanet:90307|MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667|MONDO:MONDO:0024291,MedGen:C0158570] | |
319_TRP | TER |
ClinVar chr5:86633848 |
-
|
Pathogenic | - | Capillary malformation-arteriovenous malformation syndrome [MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667] |