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 |
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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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Only interaction residues |
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|
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] |