PDB ID 12CA CHAIN A
Protein name CARBONIC ANHYDRASE II
Uniprot Accession P00918
The number of similar proteins 740
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
12CA (CHAIN: A)
1 Monomeric state
2 1G6V  
3 P00918  
Downdload
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partners
  2
  1
  0
Sequence information
1   MSHHWGYGKH   NGPEHWHKDF   PIAKGERQSP   VDIDTHTAKY   DPSLKPLSVS   50
51   YDQATSLRIL   NNGHAFNVEF   DDSQDKAVLK   GGPLDGTYRL   IQFHFHWGSL   100
101   DGQGSEHTVD   KKKYAAELHL   AHWNTKYGDF   GKAVQQPDGL   AVLGIFLKVG   150
151   SAKPGLQKVV   DVLDSIKTKG   KSADFTNFDP   RGLLPESLDY   WTYPGSLTTP   200
201   PLLECVTWIV   LKEPISVSSE   QVLKFRKLNF   NGEGEPEELM   VDNWRPAQPL   250
251   KNRQIKASFK           300
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
7_TYR TER ClinVar
chr8:86376331
rs1554709677 Pathogenic Osteopetrosis with renal tubular acidosis [MedGen:C0345407,OMIM:259730,SNOMED CT:254122007]
18_LYS GLU ClinVar
chr8:86377518
rs118203931 Pathogenic CARBONIC ANHYDRASE II VARIANT [na]
40_TYR TER ClinVar
chr8:86377586
rs118203934 Pathogenic Osteopetrosis with renal tubular acidosis [MedGen:C0345407,OMIM:259730,SNOMED CT:254122007]
92_GLN PRO VAR_001381 rs1304160279 Disease Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730]
94_HIS TYR VAR_021009 - Disease Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730]
107_HIS TYR ClinVar
chr8:86386008
rs118203933 Pathogenic Osteopetrosis with renal tubular acidosis [MedGen:C0345407,OMIM:259730,SNOMED CT:254122007]
145_GLY ARG VAR_021010 - Disease Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730]
237_PRO HIS ClinVar
chr8:86392942
rs118203932 Pathogenic CARBONIC ANHYDRASE II VARIANT [na]
253_ASN ASP VAR_001384 rs2228063 Polymorphism -