PDB ID | 2F9L
|
CHAIN | A |
---|---|---|---|
Protein name | RAB11B, member RAS oncogene family | ||
Uniprot Accession | Q15907 | ||
The number of similar proteins | 35 | ||
The number of binding states | 12 | ||
The number of binding partners | 8 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
2F9L (CHAIN: A) | |
1 | Monomeric state |
2 |
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3 |
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4 |
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5 |
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6 |
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7 |
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8 |
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9 |
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10 |
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11 |
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12 |
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Only interaction residues |
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|
Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
22_VAL | MET |
VAR_080598
rs1555690779 |
LP/P | - | 0.9973 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW) [MIM:617807] | |
22_VAL | MET |
ClinVar chr19:8464770 rs1555690779 |
Pathogenic/Likely pathogenic | - | 0.9973 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter [MONDO:MONDO:0060624,MedGen:C4540498,OMIM:617807] | |
68_ALA | THR |
VAR_080599
rs1555690804 |
LP/P | - | 0.9977 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW) [MIM:617807] | |
68_ALA | THR |
ClinVar chr19:8464908 rs1555690804 |
Pathogenic/Likely pathogenic | - | 0.9977 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter|not provided [MONDO:MONDO:0060624,MedGen:C4540498,OMIM:617807|MedGen:C3661900] | |
102_VAL | MET |
8.3kJPN chr19:8467037 rs1437902263 |
- | 0.0001 | 0.7943 | - | |
110_ARG | TRP |
8.3kJPN chr19:8467061 rs776189936 |
- | 0.0013 | 0.6851 | - | |
112_HIS | ARG |
ClinVar chr15:66170198 - |
Likely pathogenic | - | 0.9441 | 7 conditions [7 conditions] | |
120_MET | VAL |
8.3kJPN chr15:66170221 - |
- | 0.0001 | 0.6777 | - | |
120_MET | ILE |
8.3kJPN chr19:8467093 - |
- | 0.0001 | 0.9417 | - | |
154_SER | LEU |
ClinVar chr15:66172039 - |
Pathogenic/Likely pathogenic | - | 0.9982 | not provided [MedGen:C3661900] |