PDB ID | 1JCZ | CHAIN | A |
---|---|---|---|
Protein name | CARBONIC ANHYDRASE XII | ||
Uniprot Accession | O43570 | ||
The number of similar proteins | 62 | ||
The number of binding states | 5 | ||
The number of binding partners | 3 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1JCZ (CHAIN: A) | |
1 | O43570 |
2 | Monomeric state |
3 | O43570 O43570 |
4 | 6RPS 6RPS |
5 | O43570 O43570 O43570 |
Only interaction residues |
|
||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
16_TRP | TER |
8.3kJPN chr15:63638886 |
-
|
- | 0.0001 | - | |
34_HIS | ARG |
8.3kJPN chr15:63638833 |
-
|
- | 0.0001 | - | |
45_THR | MET |
gnomAD chr15:63638800 |
rs144831502
|
- | 0.000139169 | - | |
96_HIS | GLN | VAR_081182 |
rs775067652
|
LP/P | - | Hyperchlorhidrosis, isolated (HYCHL) [MIM:143860] | |
96_HIS | GLN |
ClinVar chr15:63637742 |
rs775067652
|
Pathogenic | - | Isolated hyperchlorhidrosis [MONDO:MONDO:0007747,MedGen:C1840437,OMIM:143860,Orphanet:542657] | |
102A_PRO | SER |
8.3kJPN chr15:63637723 |
-
|
- | 0.0001 | - | |
104_GLY | SER |
8.3kJPN chr15:63637717 |
rs752351418
|
- | 0.0001 | - | |
117_GLU | LYS | VAR_065292 |
rs267606694
|
LP/P | - | Hyperchlorhidrosis, isolated (HYCHL) [MIM:143860] | |
117_GLU | LYS |
ClinVar chr15:63637678 |
rs267606694
|
Pathogenic | - | Isolated hyperchlorhidrosis [MONDO:MONDO:0007747,MedGen:C1840437,OMIM:143860,Orphanet:542657] | |
125_SER | PRO |
8.3kJPN chr15:63634275 |
-
|
- | 0.0001 | - | |
142_ALA | THR |
8.3kJPN chr15:63634224 |
rs369979536
|
- | 0.0001 | - | |
148_ILE | THR |
8.3kJPN chr15:63634205 |
rs772871937
|
- | 0.0001 | - | |
167_VAL | ILE |
gnomAD chr15:63632931 |
rs145237465
|
- | 0.000226651 | - | |
177_PRO | LEU |
8.3kJPN chr15:63632626 |
rs149993127
|
- | 0.0001 | - | |
186_PRO | LEU |
8.3kJPN chr15:63632599 |
rs61733915
|
- | 0.0001 | - | |
193_ARG | SER |
8.3kJPN chr15:63632576 |
-
|
- | 0.0001 | - | |
195_ARG | GLN |
gnomAD chr15:63632569 |
rs151338276
|
- | 0.00326101 | - | |
195_ARG | GLN |
8.3kJPN chr15:63632569 |
rs151338276
|
- | 0.0001 | - | |
207_VAL | ALA |
gnomAD chr15:63632533 |
rs757714646
|
- | 0.00010339 | - | |
225_ALA | ASP |
8.3kJPN chr15:63631137 |
-
|
- | 0.0001 | - | |
235_MET | ARG |
8.3kJPN chr15:63631107 |
-
|
- | 0.0001 | - | |
237_ASP | TYR |
8.3kJPN chr15:63631102 |
-
|
- | 0.0001 | - |