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 |
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2 | Monomeric state |
3 |
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4 |
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5 |
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6 |
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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 | |
---|---|---|---|---|---|---|---|
28_PRO | LEU |
8.3kJPN chr17:4851604 rs769909149 |
- | 0.0002 | 0.7374 | - | |
51_VAL | ALA |
8.3kJPN chr17:4850093 - |
- | 0.0001 | 0.5176 | - | |
70_CYS | GLY |
VAR_068925
rs387907264 |
LP/P | - | 0.9219 | Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] | |
70_CYS | GLY |
ClinVar chr17:4850037 rs387907264 |
Pathogenic | - | 0.9219 | Amyotrophic lateral sclerosis type 18 [MONDO:MONDO:0013891,MedGen:C3553719,OMIM:614808,Orphanet:803] | |
113_MET | THR |
VAR_068926
rs387907265 |
LP/P | - | 0.9563 | Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] | |
113_MET | THR |
ClinVar chr17:4849277 rs387907265 |
Pathogenic | - | 0.9563 | 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 | - | 0.8952 | 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 | - | 0.8396 | Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] | |
116_GLU | ASP |
gnomAD chr17:4849267 rs151313170 |
- | 0.000481152 | 0.413 | - | |
116_GLU | GLY |
gnomAD chr17:4849268 rs140547520 |
- | 0.000497053 | 0.8396 | - | |
117_GLY | VAL |
VAR_068928
rs387907266 |
LP/P | - | 0.9839 | Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] | |
117_GLY | VAL |
ClinVar chr17:4849265 rs387907266 |
Pathogenic | - | 0.9839 | Amyotrophic lateral sclerosis type 18 [MONDO:MONDO:0013891,MedGen:C3553719,OMIM:614808,Orphanet:803] |