PDB ID 3CA2     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

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state
Binding partners
3CA2 (CHAIN: A)
1 Monomeric state
2 1G6V  
3 P00918  

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Format:

Molecule viewer


Only interaction residues
#binding
partners
  2
  1
  0

Sequence information

1   SHHWGYGKHN   GPEHWHKDFP   IAKGERQSPV   DIDTHTAKYD   PSLKPLSVSY   50
51   DQATSLRILN   NGHAFNVEFD   DSQDKAVLKG   GPLDGTYRLI   QFHFHWGSLD   100
101   GQGSEHTVDK   KKYAAELHLV   HWNTKYGDFG   KAVQQPDGLA   VLGIFLKVGS   150
151   AKPGLQKVVD   VLDSIKTKGK   SADFTNFDPR   GLLPESLDYW   TYPGSLTTPP   200
201   LLECVTWIVL   KEPISVSSEQ   VLKFRKLNFN   GEGEPEELMV   DNWRPAQPLK   250
251   NRQIKASFK           300

Variants

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 -
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.