PDB ID | 1G0E | CHAIN | A |
---|---|---|---|
Protein name | CARBONIC ANHYDRASE II | ||
Uniprot Accession | P00918 | ||
The number of similar proteins | 1070 | ||
The number of binding states | 3 | ||
The number of binding partners | 2 |
Unicolor (beige)
The number of binding partners
Group
Only interaction residues |
|
||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
7_TYR | TER |
ClinVar chr8:86376331 |
rs1554709677
|
Pathogenic | - | Osteopetrosis with renal tubular acidosis [MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730,Orphanet:2785] | |
8_GLY | SER |
8.3kJPN chr8:86376332 |
-
|
- | 0.0001 | - | |
14_GLU | GLY |
8.3kJPN chr8:86377507 |
-
|
- | 0.0001 | - | |
15_HIS | GLN |
8.3kJPN chr8:86377511 |
-
|
- | 0.0001 | - | |
18_LYS | GLU | VAR_001380 |
rs118203931
|
LB/B | - | - | |
18_LYS | GLU |
ClinVar chr8:86377518 |
rs118203931
|
Pathogenic | - | CARBONIC ANHYDRASE II VARIANT [-] | |
18_LYS | GLN |
gnomAD chr8:86377518 |
rs118203931
|
- | 0.000461299 | - | |
24_LYS | GLU |
8.3kJPN chr8:86377536 |
-
|
- | 0.0001 | - | |
33_ILE | SER |
8.3kJPN chr8:86377564 |
-
|
- | 0.0001 | - | |
37_THR | SER |
8.3kJPN chr8:86377575 |
rs1443776147
|
- | 0.001 | - | |
40_TYR | TER |
ClinVar chr8:86377586 |
rs118203934
|
Pathogenic | - | Osteopetrosis with renal tubular acidosis [MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730,Orphanet:2785] | |
70_PHE | LEU |
8.3kJPN chr8:86377674 |
-
|
- | 0.0001 | - | |
75_ASP | ASN |
8.3kJPN chr8:86377689 |
rs1277915292
|
- | 0.0001 | - | |
83_PRO | HIS |
8.3kJPN chr8:86385937 |
-
|
- | 0.0001 | - | |
92_GLN | PRO | VAR_001381 |
rs1304160279
|
LP/P | - | Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730] | |
92_GLN | PRO |
ClinVar chr8:86385964 |
rs1304160279
|
Likely pathogenic | - | Osteopetrosis with renal tubular acidosis [MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730,Orphanet:2785] | |
94_HIS | TYR | VAR_021009 |
-
|
LP/P | - | Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730] | |
107_HIS | TYR | VAR_001382 |
rs118203933
|
LP/P | - | Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730] | |
107_HIS | TYR |
ClinVar chr8:86386008 |
rs118203933
|
Pathogenic | - | Osteopetrosis with renal tubular acidosis [MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730,Orphanet:2785] | |
107_HIS | TYR |
8.3kJPN chr8:86386008 |
rs118203933
|
- | 0.0001 | - | |
143_VAL | ILE |
8.3kJPN chr8:86386625 |
rs373116402
|
- | 0.0003 | - | |
145_GLY | ARG | VAR_021010 |
-
|
LP/P | - | Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730] | |
146_ILE | VAL |
8.3kJPN chr8:86386634 |
rs768827690
|
- | 0.0001 | - | |
163_VAL | MET |
8.3kJPN chr8:86388066 |
rs368091458
|
- | 0.0001 | - | |
182_ARG | CYS |
8.3kJPN chr8:86389382 |
rs377003627
|
- | 0.0001 | - | |
194_TYR | TER |
ClinVar chr8:86389420 |
rs1203921376
|
Likely pathogenic | - | Osteopetrosis with renal tubular acidosis|Neurodevelopmental delay [MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730,Orphanet:2785|Human Phenotype Ontology:HP:0012758,MedGen:C4022738] | |
204_LEU | MET |
gnomAD chr8:86389448 |
rs548376992
|
- | 0.000242618 | - | |
205_GLU | TER |
ClinVar chr8:86389451 |
-
|
Pathogenic | - | Osteopetrosis with renal tubular acidosis [MONDO:MONDO:0009818,MedGen:C0345407,OMIM:259730,Orphanet:2785] | |
218_VAL | ILE |
8.3kJPN chr8:86389490 |
rs539558180
|
- | 0.0001 | - | |
227_ARG | HIS |
gnomAD chr8:86392912 |
rs201928238
|
- | 0.000135425 | - | |
227_ARG | CYS |
8.3kJPN chr8:86392911 |
rs777088645
|
- | 0.0001 | - | |
237_PRO | HIS | VAR_001383 |
rs118203932
|
LB/B | - | - | |
237_PRO | HIS |
ClinVar chr8:86392942 |
rs118203932
|
Pathogenic | - | CARBONIC ANHYDRASE II VARIANT [-] | |
238_GLU | LYS |
gnomAD chr8:86392944 |
rs143666045
|
- | 0.000199073 | - | |
253_ASN | ASP | VAR_001384 |
rs2228063
|
LB/B | - | - | |
253_ASN | ASP |
gnomAD chr8:86392989 |
rs2228063
|
- | 0.00679942 | - | |
255_GLN | ARG |
8.3kJPN chr8:86392996 |
-
|
- | 0.0001 | - |