PDB ID | 2G77 | CHAIN | B |
---|---|---|---|
Protein name | Ras-related protein Rab-33B | ||
Uniprot Accession | O35963 | ||
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 |
|
||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
35_LYS | GLU |
8.3kJPN chr4:140375452 |
-
|
- | 0.0001 | - | |
43_ASN | SER |
gnomAD chr4:140375477 |
rs371561776
|
- | 0.000254808 | - | |
46_LYS | GLN |
ClinVar chr4:140375485 |
rs587776958
|
Pathogenic | - | Smith-McCort dysplasia 2 [MONDO:MONDO:0014087,MedGen:C3714896,OMIM:615222] | |
48_CYS | TER |
ClinVar chr4:140375493 |
rs2111067418
|
Pathogenic | - | Smith-McCort dysplasia 2 [MONDO:MONDO:0014087,MedGen:C3714896,OMIM:615222] | |
71_ARG | TER |
ClinVar chr4:140375560 |
rs1085307128
|
Pathogenic | - | Smith-McCort dysplasia 2 [MONDO:MONDO:0014087,MedGen:C3714896,OMIM:615222] | |
74_ALA | VAL |
8.3kJPN chr4:140375570 |
rs1267179477
|
- | 0.0001 | - | |
77_ILE | MET |
gnomAD chr4:140375580 |
rs202128260
|
- | 0.000497058 | - | |
85_GLN | TER |
ClinVar chr4:140393843 |
rs2111087458
|
Pathogenic | - | Smith-McCort dysplasia 2 [MONDO:MONDO:0014087,MedGen:C3714896,OMIM:615222] | |
94_ARG | TER |
ClinVar chr4:140393870 |
rs1187861686
|
Pathogenic | - | Smith-McCort dysplasia 2 [MONDO:MONDO:0014087,MedGen:C3714896,OMIM:615222] | |
113_VAL | MET |
gnomAD chr4:140393927 |
rs150536664
|
- | 0.000131314 | - | |
113_VAL | LEU |
8.3kJPN chr4:140393927 |
-
|
- | 0.0001 | - | |
134_GLN | TER |
ClinVar chr4:140393990 |
rs1750416123
|
Pathogenic | - | Smith-McCort dysplasia 2|Skeletal dysplasia [MONDO:MONDO:0014087,MedGen:C3714896,OMIM:615222|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MONDO:MONDO:0018230,MedGen:C0410528,Orphanet:364526] | |
148_ASN | LYS |
ClinVar chr4:140394034 |
rs886044716
|
Pathogenic | - | Smith-McCort dysplasia 2 [MONDO:MONDO:0014087,MedGen:C3714896,OMIM:615222] | |
164_GLN | TER |
ClinVar chr4:140394080 |
rs1085307131
|
Pathogenic | - | Smith-McCort dysplasia 2 [MONDO:MONDO:0014087,MedGen:C3714896,OMIM:615222] | |
177_THR | MET |
gnomAD chr4:140394120 |
rs140381459
|
- | 0.00155561 | - |