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 |
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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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7 |
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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 | |
---|---|---|---|---|---|---|---|
644_ARG | TER |
ClinVar chr12:12317329 - |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
674_ASN | SER |
gnomAD chr12:12317238 rs560695053 |
- | 0.000179254 | 0.1211 | - | |
676_ILE | VAL |
gnomAD chr12:12317233 rs188649737 |
- | 0.000151422 | 0.2113 | - | |
681_ILE | ARG |
8.3kJPN chr12:12317217 - |
- | 0.0001 | 0.9511 | - | |
714_TRP | CYS |
8.3kJPN chr12:12315264 - |
- | 0.0001 | 0.9993 | - | |
716_GLY | TRP |
gnomAD chr12:12315260 rs148592779 |
- | 0.000317969 | 0.9956 | - | |
728_ARG | TER |
ClinVar chr12:12315224 rs1202176045 |
Pathogenic | - | - | not provided [MedGen:C3661900] | |
735_ASP | ASN |
gnomAD chr12:12315203 rs149258721 |
- | 0.000238591 | 0.3069 | - | |
735_ASP | ASN |
8.3kJPN chr12:12315203 rs149258721 |
- | 0.0001 | 0.3069 | - | |
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 | - | 0.53 | - | |
817_SER | CYS |
gnomAD chr12:12312728 rs2302686 |
- | 0.000879098 | 0.53 | - | |
817_SER | CYS |
8.3kJPN chr12:12312728 rs2302686 |
- | 0.0035 | 0.53 | - | |
867_THR | ALA |
gnomAD chr12:12311955 rs141458215 |
- | 0.000131232 | 0.2813 | - | |
890_TRP | TER |
ClinVar chr12:12311885 rs1555108264 |
Pathogenic | - | - | not provided [MedGen:CN517202] | |
896_SER | ARG |
8.3kJPN chr12:12311868 - |
- | - | 0.4183 | - | |
931_ALA | VAL |
8.3kJPN chr12:12303972 - |
- | 0.0001 | 0.2099 | - | |
933_THR | MET |
8.3kJPN chr12:12303966 rs772208806 |
- | 0.0001 | 0.1272 | - | |
947_MET | THR |
ClinVar chr12:12303924 rs2136919683 |
Pathogenic | - | 0.9307 | 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 | 0.1203 | - | |
1026_ARG | HIS |
8.3kJPN chr12:12302005 rs146852380 |
- | 0.0001 | 0.1203 | - | |
1032_CYS | PHE |
ClinVar chr12:12301987 - |
Likely pathogenic | - | 0.9185 | Tooth agenesis, selective, 7 [MONDO:MONDO:0014749,MedGen:C4225231,OMIM:616724,Orphanet:99798] | |
1036_ASN | SER |
8.3kJPN chr12:12301975 rs143873199 |
- | 0.0001 | 0.1511 | - | |
1044_ASP | ASN |
gnomAD chr12:12301952 rs140182370 |
- | 0.00057282 | 0.1401 | - | |
1054_GLY | SER |
8.3kJPN chr12:12301922 - |
- | 0.0001 | 0.1207 | - | |
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 | 0.1627 | - | |
1075_ASN | SER |
8.3kJPN chr12:12300473 rs202124188 |
- | 0.0001 | 0.1627 | - | |
1093_ARG | GLN |
8.3kJPN chr12:12300419 - |
- | 0.0001 | 0.5155 | - | |
1093_ARG | TRP |
8.3kJPN chr12:12300420 rs752896710 |
- | 0.0001 | 0.8793 | - | |
1112_ARG | SER |
8.3kJPN chr12:12300361 - |
- | 0.0001 | 0.1387 | - | |
1115_LYS | ARG |
8.3kJPN chr12:12300353 rs774000955 |
- | 0.0004 | 0.0908 | - | |
1127_GLU | GLY |
gnomAD chr12:12300317 rs560813860 |
- | 0.000334132 | 0.9714 | - | |
1130_ASP | ASN |
gnomAD chr12:12300309 rs142845287 |
- | 0.000481339 | 0.303 | - | |
1135_ASN | THR |
8.3kJPN chr12:12291462 - |
- | 0.0001 | 0.4933 | - | |
1136_ARG | TRP |
gnomAD chr12:12291460 rs140962861 |
- | 0.00015536 | 0.9607 | - | |
1154_GLU | LYS |
gnomAD chr12:12291406 rs779768114 |
- | 0.000131316 | 0.1317 | - | |
1165_GLN | TER |
8.3kJPN chr12:12291373 - |
- | 0.0001 | - | - | |
1175_ARG | GLY |
8.3kJPN chr12:12291343 - |
- | 0.0001 | 0.1459 | - | |
1176_GLU | ALA |
gnomAD chr12:12291339 rs145672862 |
- | 0.000159106 | 0.1025 | - | |
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 | 0.2163 | - | |
1224_GLY | SER |
8.3kJPN chr12:12288172 rs749736350 |
- | 0.0001 | 0.2867 | - |