PDB ID | 3S2K | CHAIN | A |
---|---|---|---|
Protein name | Low-density lipoprotein receptor-related protein 6 | ||
Uniprot Accession | O75581 | ||
The number of similar proteins | 12 | ||
The number of binding states | 7 | ||
The number of binding partners | 5 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
3S2K (CHAIN: A) | |
1 | O75581 O94907 |
2 | Monomeric state |
3 | 8DVM |
4 | 6H16 |
5 | O94907 |
6 | O94907 Q96MU8 |
7 | 6H15 6H15 |
Only interaction residues |
|
||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
644_ARG | TER |
ClinVar chr12:12317329 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
674_ASN | SER |
gnomAD chr12:12317238 |
rs560695053
|
- | 0.000179254 | - | |
676_ILE | VAL |
gnomAD chr12:12317233 |
rs188649737
|
- | 0.000151422 | - | |
681_ILE | ARG |
8.3kJPN chr12:12317217 |
-
|
- | 0.0001 | - | |
714_TRP | CYS |
8.3kJPN chr12:12315264 |
-
|
- | 0.0001 | - | |
716_GLY | TRP |
gnomAD chr12:12315260 |
rs148592779
|
- | 0.000317969 | - | |
728_ARG | TER |
ClinVar chr12:12315224 |
rs1202176045
|
Pathogenic | - | not provided [MedGen:C3661900] | |
735_ASP | ASN |
gnomAD chr12:12315203 |
rs149258721
|
- | 0.000238591 | - | |
735_ASP | ASN |
8.3kJPN chr12:12315203 |
rs149258721
|
- | 0.0001 | - | |
740_GLN | TER |
ClinVar chr12:12315188 |
rs1591901585
|
Pathogenic | - | Oligodontia|Tooth agenesis, selective, 7 [Human Phenotype Ontology:HP:0000677,Human Phenotype Ontology:HP:0000702,MedGen:C4082304|MONDO:MONDO:0014749,MedGen:C4225231,OMIM:616724,Orphanet:99798]; Coronary artery disease, autosomal dominant 2 [MONDO:MONDO:0012586,MedGen:C1970440,OMIM:610947] | |
817_SER | CYS | VAR_030350 |
rs2302686
|
LB/B | - | - | |
817_SER | CYS |
gnomAD chr12:12312728 |
rs2302686
|
- | 0.000879098 | - | |
817_SER | CYS |
8.3kJPN chr12:12312728 |
rs2302686
|
- | 0.0035 | - | |
867_THR | ALA |
gnomAD chr12:12311955 |
rs141458215
|
- | 0.000131232 | - | |
890_TRP | TER |
ClinVar chr12:12311885 |
rs1555108264
|
Pathogenic | - | not provided [MedGen:CN517202] | |
896_SER | ARG |
8.3kJPN chr12:12311868 |
-
|
- | - | - | |
931_ALA | VAL |
8.3kJPN chr12:12303972 |
-
|
- | 0.0001 | - | |
933_THR | MET |
8.3kJPN chr12:12303966 |
rs772208806
|
- | 0.0001 | - | |
947_MET | THR |
ClinVar chr12:12303924 |
rs2136919683
|
Pathogenic | - | Tooth agenesis, selective, 7 [MONDO:MONDO:0014749,MedGen:C4225231,OMIM:616724,Orphanet:99798] | |
985_ARG | TER |
ClinVar chr12:12303811 |
rs745688776
|
Pathogenic | - | not provided [MedGen:CN517202] | |
1026_ARG | HIS |
gnomAD chr12:12302005 |
rs146852380
|
- | 0.000135243 | - | |
1026_ARG | HIS |
8.3kJPN chr12:12302005 |
rs146852380
|
- | 0.0001 | - | |
1032_CYS | PHE |
ClinVar chr12:12301987 |
-
|
Likely pathogenic | - | Tooth agenesis, selective, 7 [MONDO:MONDO:0014749,MedGen:C4225231,OMIM:616724,Orphanet:99798] | |
1036_ASN | SER |
8.3kJPN chr12:12301975 |
rs143873199
|
- | 0.0001 | - | |
1044_ASP | ASN |
gnomAD chr12:12301952 |
rs140182370
|
- | 0.00057282 | - | |
1054_GLY | SER |
8.3kJPN chr12:12301922 |
-
|
- | 0.0001 | - | |
1060_ARG | TER |
ClinVar chr12:12301904 |
rs765274952
|
Pathogenic | - | not provided [MedGen:CN517202] | |
1062_VAL | ILE |
gnomAD chr12:12301898 |
rs2302685
|
- | 0.850934 | - | |
1062_VAL | ILE |
8.3kJPN chr12:12301898 |
rs2302685
|
- | 0.9493 | - | |
1075_ASN | SER |
gnomAD chr12:12300473 |
rs202124188
|
- | 0.000183217 | - | |
1075_ASN | SER |
8.3kJPN chr12:12300473 |
rs202124188
|
- | 0.0001 | - | |
1093_ARG | GLN |
8.3kJPN chr12:12300419 |
-
|
- | 0.0001 | - | |
1093_ARG | TRP |
8.3kJPN chr12:12300420 |
rs752896710
|
- | 0.0001 | - | |
1112_ARG | SER |
8.3kJPN chr12:12300361 |
-
|
- | 0.0001 | - | |
1115_LYS | ARG |
8.3kJPN chr12:12300353 |
rs774000955
|
- | 0.0004 | - | |
1127_GLU | GLY |
gnomAD chr12:12300317 |
rs560813860
|
- | 0.000334132 | - | |
1130_ASP | ASN |
gnomAD chr12:12300309 |
rs142845287
|
- | 0.000481339 | - | |
1135_ASN | THR |
8.3kJPN chr12:12291462 |
-
|
- | 0.0001 | - | |
1136_ARG | TRP |
gnomAD chr12:12291460 |
rs140962861
|
- | 0.00015536 | - | |
1154_GLU | LYS |
gnomAD chr12:12291406 |
rs779768114
|
- | 0.000131316 | - | |
1165_GLN | TER |
8.3kJPN chr12:12291373 |
-
|
- | 0.0001 | - | |
1175_ARG | GLY |
8.3kJPN chr12:12291343 |
-
|
- | 0.0001 | - | |
1176_GLU | ALA |
gnomAD chr12:12291339 |
rs145672862
|
- | 0.000159106 | - | |
1196_GLU | TER |
ClinVar chr12:12291280 |
-
|
Likely pathogenic | - | LRP6-related condition [-] | |
1209_GLN | TER |
ClinVar chr12:12288217 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
1210_ASP | TYR |
8.3kJPN chr12:12288214 |
rs372538850
|
- | 0.0007 | - | |
1224_GLY | SER |
8.3kJPN chr12:12288172 |
rs749736350
|
- | 0.0001 | - |