PDB ID | 2ERY | CHAIN | A |
---|---|---|---|
Protein name | Ras-related protein R-Ras2 | ||
Uniprot Accession | P62070 | ||
The number of similar proteins | 1 | ||
The number of binding states | 1 | ||
The number of binding partners | 0 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
2ERY (CHAIN: A) | |
1 | Monomeric state |
Only interaction residues |
|
||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
23_GLY | VAL | VAR_083149 |
rs1591495779
|
LP/P | - | Noonan syndrome 12 (NS12) [MIM:618624] | |
23_GLY | VAL |
ClinVar chr11:14380349 |
rs1591495779
|
Pathogenic | - | Noonan syndrome|not provided [MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:CN517202] | |
23_GLY | CYS |
ClinVar chr11:14380350 |
rs2134048726
|
Pathogenic/Likely pathogenic | - | not provided|Noonan syndrome [MedGen:C3661900|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648] | |
23_GLY | ASP |
ClinVar chr11:14380349 |
rs1591495779
|
Pathogenic | - | Noonan syndrome 12|not provided [MONDO:MONDO:0032839,MedGen:C5231432,OMIM:618624|MedGen:C3661900] | |
24_GLY | ASP |
ClinVar chr11:14380346 |
-
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
41_THR | MET |
8.3kJPN chr11:14317388 |
rs782670869
|
- | 0.0001 | - | |
70_ALA | THR | VAR_083152 |
rs782457908
|
LP/P | - | Noonan syndrome 12 (NS12) [MIM:618624] | |
75_PHE | CYS | VAR_083154 |
-
|
US | - | - | |
98_ARG | LYS |
8.3kJPN chr11:14316312 |
-
|
- | 0.0003 | - | |
105_TYR | CYS |
8.3kJPN chr11:14316111 |
rs571234555
|
- | 0.0002 | - | |
117_ARG | HIS |
8.3kJPN chr11:14316075 |
rs566703225
|
- | 0.0001 | - | |
138_THR | SER |
gnomAD chr11:14303263 |
rs549966258
|
- | 0.000606392 | - | |
147_ARG | TRP |
ClinVar chr11:14303236 |
-
|
Likely pathogenic | - | Noonan syndrome 12 [MONDO:MONDO:0032839,MedGen:C5231432,OMIM:618624] |