PDB ID | 1AWI | CHAIN | A |
---|---|---|---|
Protein name | PROFILIN | ||
Uniprot Accession | P07737 | ||
The number of similar proteins | 23 | ||
The number of binding states | 6 | ||
The number of binding partners | 5 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1AWI (CHAIN: A) | |
1 | P07737 |
2 | Monomeric state |
3 | P68135 |
4 | P68135 Q93015 |
5 | P68135 P50552 |
6 | A0A6N3LUE9 P68135 |
Only interaction residues |
|
||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
28_PRO | LEU |
8.3kJPN chr17:4851604 |
rs769909149
|
- | 0.0002 | - | |
51_VAL | ALA |
8.3kJPN chr17:4850093 |
-
|
- | 0.0001 | - | |
70_CYS | GLY | VAR_068925 |
rs387907264
|
LP/P | - | Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] | |
70_CYS | GLY |
ClinVar chr17:4850037 |
rs387907264
|
Pathogenic | - | Amyotrophic lateral sclerosis type 18 [MONDO:MONDO:0013891,MedGen:C3553719,OMIM:614808,Orphanet:803] | |
113_MET | THR | VAR_068926 |
rs387907265
|
LP/P | - | Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] | |
113_MET | THR |
ClinVar chr17:4849277 |
rs387907265
|
Pathogenic | - | Amyotrophic lateral sclerosis type 18|not provided [MONDO:MONDO:0013891,MedGen:C3553719,OMIM:614808,Orphanet:803|MedGen:C3661900] | |
113_MET | ARG |
ClinVar chr17:4849277 |
rs387907265
|
Likely pathogenic | - | Lower limb muscle weakness [Human Phenotype Ontology:HP:0002065,Human Phenotype Ontology:HP:0002477,Human Phenotype Ontology:HP:0007340,Human Phenotype Ontology:HP:0009047,MedGen:C1836296] | |
116_GLU | GLY | VAR_068927 |
rs140547520
|
US | - | Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] | |
116_GLU | ASP |
gnomAD chr17:4849267 |
rs151313170
|
- | 0.000481152 | - | |
116_GLU | GLY |
gnomAD chr17:4849268 |
rs140547520
|
- | 0.000497053 | - | |
117_GLY | VAL | VAR_068928 |
rs387907266
|
LP/P | - | Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] | |
117_GLY | VAL |
ClinVar chr17:4849265 |
rs387907266
|
Pathogenic | - | Amyotrophic lateral sclerosis type 18 [MONDO:MONDO:0013891,MedGen:C3553719,OMIM:614808,Orphanet:803] |