PDB ID | 2NN1 | CHAIN | A |
---|---|---|---|
Protein name | Carbonic anhydrase 1 | ||
Uniprot Accession | P00915 | ||
The number of similar proteins | 46 | ||
The number of binding states | 1 | ||
The number of binding partners | 0 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
2NN1 (CHAIN: A) | |
1 | Monomeric state |
Only interaction residues |
|
||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
12_GLY | SER |
8.3kJPN chr8:86253828 |
-
|
- | 0.0009 | - | |
16_TRP | TER |
8.3kJPN chr8:86250665 |
rs75953460
|
- | 0.0051 | - | |
23_ALA | THR |
gnomAD chr8:86250646 |
rs376802220
|
- | 0.000314683 | - | |
64_HIS | GLN |
8.3kJPN chr8:86250521 |
rs768197220
|
- | 0.0018 | - | |
67_HIS | ARG | VAR_001378 |
rs990757234
|
LB/B | - | - | |
79_LEU | MET |
8.3kJPN chr8:86249290 |
-
|
- | 0.0001 | - | |
86_ASP | GLU |
8.3kJPN chr8:86249267 |
rs531329320
|
- | 0.0007 | - | |
86_ASP | GLY |
8.3kJPN chr8:86249268 |
-
|
- | 0.0002 | - | |
89_ARG | GLY |
8.3kJPN chr8:86249260 |
-
|
- | 0.0001 | - | |
100_THR | LYS |
gnomAD chr8:86249226 |
rs150475113
|
- | 0.000107629 | - | |
107_HIS | TYR |
gnomAD chr8:86249206 |
rs568767251
|
- | 0.000263013 | - | |
117_GLU | LYS |
gnomAD chr8:86249176 |
rs202131223
|
- | 0.000231184 | - | |
120_VAL | ILE |
gnomAD chr8:86245843 |
rs74744080
|
- | 0.000167989 | - | |
120_VAL | ILE |
8.3kJPN chr8:86245843 |
rs74744080
|
- | 0.0003 | - | |
142_ALA | VAL | VAR_048679 |
rs7821248
|
LB/B | - | - | |
142_ALA | VAL |
gnomAD chr8:86245776 |
rs7821248
|
- | 0.0068345 | - | |
155_PRO | ALA |
8.3kJPN chr8:86244766 |
-
|
- | 0.0001 | - | |
166_ALA | VAL |
gnomAD chr8:86244732 |
rs61734485
|
- | 0.00942456 | - | |
183_THR | ALA |
gnomAD chr8:86242037 |
rs142569626
|
- | 0.000174233 | - | |
185_LEU | PHE |
gnomAD chr8:86242031 |
rs201133833
|
- | 0.000190415 | - | |
185_LEU | PHE |
8.3kJPN chr8:86242031 |
rs201133833
|
- | 0.0077 | - | |
192_TRP | CYS |
8.3kJPN chr8:86242008 |
-
|
- | 0.0001 | - | |
195_PRO | LEU |
gnomAD chr8:86242000 |
rs61734484
|
- | 0.00358912 | - | |
231_SER | THR |
gnomAD chr8:86240881 |
rs754627939
|
- | 0.000147593 | - | |
237_ASN | LYS |
8.3kJPN chr8:86240861 |
-
|
- | 0.0001 | - | |
241_MET | VAL |
gnomAD chr8:86240851 |
rs78898210
|
- | 0.00175306 | - | |
246_ARG | HIS |
ClinVar chr8:86240835 |
rs121909578
|
Pathogenic | - | Carbonic anhydrase I deficiency [MedGen:C4015932] | |
246_ARG | CYS |
8.3kJPN chr8:86240836 |
rs767885397
|
- | 0.0001 | - | |
253_GLY | ARG | VAR_001379 |
rs121909577
|
LB/B | - | - | |
253_GLY | ARG |
ClinVar chr8:86240815 |
rs121909577
|
Pathogenic | - | Carbonic anhydrase I, Guam [MedGen:C4015931] | |
257_ARG | ILE |
8.3kJPN chr8:86240802 |
-
|
- | 0.0002 | - |