| PDB ID | 1BET
|
CHAIN | A |
|---|---|---|---|
| Protein name | BETA-NERVE GROWTH FACTOR | ||
| Uniprot Accession | P01139 | ||
| The number of similar proteins | 31 | ||
| The number of binding states | 11 | ||
| The number of binding partners | 8 | ||
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 1BET (CHAIN: A) | |
| 1 | Monomeric state |
| 2 |
P01139
|
| 3 |
P01139
Q9EPR5
|
| 4 |
P01139
P01139
|
| 5 |
P01138
P07174
|
| 6 |
4EDW
4EDW
|
| 7 |
P01138
P04629
P04629
|
| 8 |
P01138
P04629
P04629
|
| 9 |
P01138
5JZ7
5JZ7
5JZ7
|
| 10 |
P01139
P00757
P00757
P00756
P00756
|
| 11 |
P01138
4EDX
4EDX
4EDX
4EDX
|
|
Only interaction residues |
|
||||||||||||||||||
|
|
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 49_PHE | LEU |
8.3kJPN chr1:115828909 rs139541754 |
- | 0.0001 | - | - | |
| 50_LYS | ARG |
8.3kJPN chr1:115828905 rs375808064 |
- | 0.0001 | - | - | |
| 54_PHE | VAL |
8.3kJPN chr1:115828894 - |
- | 0.0001 | - | - | |
| 64_VAL | ILE |
gnomAD chr1:115828864 rs141889164 |
- | 0.000178931 | - | - | |
| 64_VAL | ILE |
8.3kJPN chr1:115828864 rs141889164 |
- | 0.0001 | - | - | |
| 66_SER | ARG |
8.3kJPN chr1:115828856 rs779744960 |
- | 0.0001 | - | - | |
| 100_ARG | TRP |
ClinVar chr1:115828756 rs11466112 |
Pathogenic | - | - | Congenital sensory neuropathy with selective loss of small myelinated fibers [MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654,Orphanet:64752] |