| PDB ID | 1AV1
|
CHAIN | A |
|---|---|---|---|
| Protein name | APOLIPOPROTEIN A-I | ||
| Uniprot Accession | P02647 | ||
| The number of similar proteins | 29 | ||
| The number of binding states | 5 | ||
| The number of binding partners | 5 | ||
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 1AV1 (CHAIN: A) | |
| 1 |
P02647
P02647
P02647
|
| 2 |
P02647
|
| 3 |
8VXJ
8VXJ
|
| 4 |
P02647
P04049
|
| 5 |
P02647
P01116
|
|
Only interaction residues |
|
||||||||||||
|
|
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 50_TRP | ARG |
ClinVar chr11:116707108 rs121912726 |
Pathogenic | - | 0.9737 | Familial amyloid polyneuropathy, Iowa type|not provided [MONDO:MONDO:0971008,MedGen:C4551500,OMIM:620657|MedGen:C3661900] | |
| 53_VAL | MET |
8.3kJPN chr11:116707099 - |
- | 0.0006 | 0.1276 | - | |
| 60_LEU | ARG |
VAR_000610
rs121912724 |
LP/P | - | 0.9408 | Amyloidosis, hereditary systemic 3 (AMYLD3) [MIM:620657] | |
| 60_LEU | ARG |
ClinVar chr11:116707077 rs121912724 |
Pathogenic | - | 0.9408 | Familial amyloid polyneuropathy, Iowa type [MONDO:MONDO:0971008,MedGen:C4551500,OMIM:620657] | |
| 68_THR | ILE |
VAR_017017
rs766422306 |
LB/B | - | 0.8768 | - | |
| 71_PHE | TYR |
gnomAD chr11:116707044 rs138407155 |
- | 0.000521099 | 0.4617 | - | |
| 72_TRP | ARG |
ClinVar chr11:116707042 - |
Pathogenic | - | - | Familial amyloid polyneuropathy, Iowa type [MONDO:MONDO:0971008,MedGen:C4551500,OMIM:620657] | |
| 74_ASN | LYS |
8.3kJPN chr11:116707034 - |
- | 0.0001 | 0.1751 | - | |
| 75_LEU | PRO |
ClinVar chr11:116707032 rs372520221 |
Pathogenic/Likely pathogenic | - | 0.993 | not provided|Cardiovascular phenotype|Hypoalphalipoproteinemia, primary, 2 [MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0032766,MedGen:C5551172,OMIM:618463]; Hypoalphalipoproteinemia, primary, 2, intermediate [MONDO:MONDO:0859238,MedGen:C5677030,OMIM:619836]; Familial amyloid polyneuropathy, Iowa type [MONDO:MONDO:0971008,MedGen:C4551500,OMIM:620657] | |
| 79_THR | ILE |
8.3kJPN chr11:116707020 - |
- | 0.0001 | 0.8659 | - | |
| 84_GLN | TER |
ClinVar chr11:116707006 rs121912723 |
Pathogenic | - | - | Hypoalphalipoproteinemia, primary, 2 [MONDO:MONDO:0032766,MedGen:C5551172,OMIM:618463] | |
| 84_GLN | TER |
8.3kJPN chr11:116707006 rs121912723 |
- | 0.0001 | - | - | |
| 89_ASP | GLU |
VAR_000611
rs150243849 |
LB/B | - | 0.6948 | - | |
| 95_ALA | ASP |
VAR_000612
- |
US | - | 0.1819 | - | |
| 95_ALA | ASP |
8.3kJPN chr11:116706972 - |
- | 0.0002 | 0.1819 | - | |
| 98_GLN | TER |
ClinVar chr11:116706964 rs2134231221 |
Likely pathogenic | - | - | Hypoalphalipoproteinemia, primary, 2 [MONDO:MONDO:0032766,MedGen:C5551172,OMIM:618463] | |
| 102_ASP | HIS |
VAR_016189
rs5077 |
LB/B | - | 0.3377 | - | |
| 103_ASP | ASN |
VAR_000613
rs921646982 |
LB/B | - | 0.098 | - | |
| 107_LYS | MET |
VAR_000615
rs4882 |
LB/B | - | 0.5307 | - | |
| 107_LYS | TER |
ClinVar chr11:116706937 rs121912716 |
Pathogenic | - | - | APOLIPOPROTEIN A-I (MARBURG) [-] | |
| 108_TRP | ARG |
VAR_000616
- |
US | - | 0.9757 | - | |
| 110_GLU | LYS |
VAR_000617
- |
US | - | 0.1697 | - | |
| 128_GLU | LYS |
gnomAD chr11:116706874 rs574061789 |
- | 0.000203646 | 0.1906 | - | |
| 136_GLU | LYS |
VAR_000618
rs121912718 |
LB/B | - | 0.2602 | - | |
| 136_GLU | TER |
ClinVar chr11:116706850 rs121912718 |
Pathogenic | - | - | Hypoalphalipoproteinemia, primary, 2, intermediate [MONDO:MONDO:0859238,MedGen:C5677030,OMIM:619836] | |
| 139_GLU | GLY |
VAR_000619
rs758509542 |
LB/B | - | 0.0769 | - | |
| 141_LEU | ARG |
ClinVar chr11:116706834 rs779081481 |
Pathogenic | - | 0.9302 | not provided [MedGen:C3661900] | |
| 143_PRO | ARG |
VAR_000620
rs121912719 |
LB/B | - | 0.3946 | - | |
| 144_LEU | ARG |
VAR_000621
- |
US | - | 0.4046 | - | |
| 147_GLU | VAL |
VAR_000622
rs1015066427 |
LB/B | - | 0.3252 | - | |
| 149_ARG | SER |
VAR_074073
- |
US | - | 0.9238 | - | |
| 149_ARG | PRO |
VAR_083310
- |
US | - | 0.9624 | Amyloidosis, hereditary systemic 3 (AMYLD3) [MIM:620657] | |
| 149_ARG | PRO |
ClinVar chr11:116706810 rs387906571 |
Pathogenic | - | 0.9624 | Familial amyloid polyneuropathy, Iowa type [MONDO:MONDO:0971008,MedGen:C4551500,OMIM:620657] | |
| 155_HIS | ARG |
8.3kJPN chr11:116706792 rs1023694493 |
- | 0.0002 | 0.3602 | - | |
| 156_VAL | GLU |
VAR_021362
rs121912727 |
LB/B | - | 0.9365 | - | |
| 156_VAL | GLU |
ClinVar chr11:116706789 rs121912727 |
Pathogenic | - | 0.9365 | Hypoalphalipoproteinemia, primary, 2 [MONDO:MONDO:0032766,MedGen:C5551172,OMIM:618463] | |
| 156_VAL | GLU |
8.3kJPN chr11:116706789 rs121912727 |
- | 0.0001 | 0.9365 | - | |
| 157_ASP | GLY |
ClinVar chr11:116706786 rs2134230655 |
Likely pathogenic | - | 0.4491 | Hypoalphalipoproteinemia, primary, 2 [MONDO:MONDO:0032766,MedGen:C5551172,OMIM:618463] | |
| 160_ARG | PRO |
VAR_014609
rs5078 |
LB/B | - | 0.9805 | - | |
| 164_ALA | SER |
gnomAD chr11:116706766 rs140770089 |
- | 0.000497371 | 0.0918 | - | |
| 165_PRO | ARG |
VAR_000623
rs121912722 |
LB/B | - | 0.6776 | - | |
| 173_ARG | CYS |
VAR_000624
rs28931573 |
LB/B | - | 0.5481 | - | |
| 173_ARG | CYS |
ClinVar chr11:116706739 rs28931573 |
Pathogenic | - | 0.5481 | APOLIPOPROTEIN A-I (MILANO) [-] | |
| 173_ARG | PRO |
ClinVar chr11:116706738 rs121912728 |
Pathogenic | - | 0.7712 | not provided [MedGen:C3661900] | |
| 174_LEU | SER |
VAR_083311
- |
LP/P | - | 0.9016 | Amyloidosis, hereditary systemic 3 (AMYLD3) [MIM:620657] | |
| 174_LEU | SER |
ClinVar chr11:116706735 rs121912729 |
Pathogenic | - | 0.9016 | Familial amyloid polyneuropathy, Iowa type [MONDO:MONDO:0971008,MedGen:C4551500,OMIM:620657] | |
| 175_ALA | PRO |
VAR_083312
- |
US | - | 0.8449 | Amyloidosis, hereditary systemic 3 (AMYLD3) [MIM:620657] | |
| 175_ALA | PRO |
ClinVar chr11:116706733 rs121912730 |
Pathogenic | - | 0.8449 | Familial amyloid polyneuropathy, Iowa type [MONDO:MONDO:0971008,MedGen:C4551500,OMIM:620657] | |
| 178_LEU | PRO |
ClinVar chr11:116706723 rs2134230434 |
Pathogenic | - | 0.938 | not provided [MedGen:C3661900] | |
| 198_GLU | LYS |
VAR_000625
rs121912717 |
LB/B | - | 0.1756 | - | |
| 198_GLU | LYS |
8.3kJPN chr11:116706664 rs121912717 |
- | 0.0001 | 0.1756 | - |