PDB ID | 4OY9
|
CHAIN | A |
---|---|---|---|
Protein name | Cadherin-3 | ||
Uniprot Accession | P22223 | ||
The number of similar proteins | 26 | ||
The number of binding states | 4 | ||
The number of binding partners | 4 |
Unicolor (beige)
The number of binding partners
Group
Only interaction residues |
|
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Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
3_VAL | ALA |
8.3kJPN chr16:68712119 - |
- | 0.0001 | 0.3396 | - | |
28_LYS | ARG |
8.3kJPN chr16:68712417 - |
- | 0.0001 | 0.0724 | - | |
30_ARG | LYS |
gnomAD chr16:68712423 rs200737028 |
- | 0.000147654 | 0.0717 | - | |
46_PRO | SER |
8.3kJPN chr16:68712470 rs779790678 |
- | 0.0001 | 0.2227 | - | |
53_VAL | ILE |
8.3kJPN chr16:68712491 rs761132411 |
- | 0.0002 | 0.0573 | - | |
68_ARG | GLN |
8.3kJPN chr16:68712537 - |
- | 0.0001 | 0.67 | - | |
75_GLU | ASP |
8.3kJPN chr16:68712559 - |
- | 0.0001 | 0.2763 | - | |
98_VAL | MET |
ClinVar chr16:68712731 - |
Likely pathogenic | - | 0.9201 | not provided [MedGen:C3661900] | |
112_THR | SER |
8.3kJPN chr16:68712774 rs768894285 |
- | 0.0001 | 0.091 | - | |
114_ARG | TER |
ClinVar chr16:68712779 rs761941770 |
Pathogenic | - | - | not provided|Congenital hypotrichosis with juvenile macular dystrophy [MedGen:C3661900|MONDO:MONDO:0011107,MedGen:C1832162,OMIM:601553,Orphanet:1573] | |
130_VAL | MET |
VAR_031929
rs17854171 |
LB/B | - | 0.5236 | - | |
142_TYR | TER |
ClinVar chr16:68713757 rs1597807758 |
Pathogenic | - | - | Hypotrichosis with juvenile macular dystrophy|not provided [|MedGen:C3661900] | |
162_MET | LEU |
gnomAD chr16:68713815 rs36038900 |
- | 0.00410377 | 0.1585 | - | |
170_GLY | ASP |
ClinVar chr16:68713840 rs1597807897 |
Likely pathogenic | - | 0.9781 | Hypotrichosis with juvenile macular dystrophy [-] | |
189_LEU | VAL |
gnomAD chr16:68714889 rs565345878 |
- | 0.000202807 | 0.2042 | - | |
192_GLN | TER |
ClinVar chr16:68714898 rs866290802 |
Pathogenic | - | - | not provided [MedGen:CN517202] | |
196_MET | ILE |
gnomAD chr16:68714912 rs148535251 |
- | 0.00106989 | 0.7131 | - | |
204_THR | MET |
8.3kJPN chr16:68714935 rs527796702 |
- | 0.0001 | 0.09 | - | |
211_ILE | VAL |
8.3kJPN chr16:68714955 rs1222076087 |
- | 0.0001 | 0.1327 | - |