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Results for the Protein: P00915
115449
759
CA1

CAH1_HUMAN RecName: Full=Carbonic anhydrase 1; AltName: Full=Carbonate dehydratase I; AltName: Full=Carbonic anhydrase B; Short=CAB; AltName: Full=Carbonic anhydrase I; Short=CA-I

Known Diseases associated with this Protein:
  CARBONIC ANHYDRASE I DEFICIENCY
  CARBONIC ANHYDRASE I, GUAM
2
3
2
1
2
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

Cah - COG3338
alpha_CA_I_II_III_XI - cd03119
alpha_CA_VI - cd03125
alpha_CA_IX - cd03150
alpha_CA_prokaryotic - cd03124
alpha_CA_XII_XIV - cd03126
alpha_CARP_VIII - cd03120
alpha_CA_VI_IX_XII_X - cd03123
alpha_CARP_X_XI_like - cd03121
alpha_CARP_receptor_ - cd03122
Carb_anhydrase - pfam00194
alpha_CA_VII - cd03149
alpha_CA_IV_XV_like - cd03117
alpha_CA - cd00326
alpha_CA_V - cd03118




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
alpha_CA_I_II_III_XIcd031192.2e-1942261
alpha_CARP_VIIIcd031206.1e-6013261
alpha_CARP_X_XI_likecd031212.2e-3513259
alpha_CARP_receptor_cd031225e-4513259
alpha_CA_VI_IX_XII_Xcd031232.3e-5913261
alpha_CA_prokaryoticcd031241.2e-6413259
alpha_CA_VIcd031252.9e-3113261
alpha_CA_XII_XIVcd031261.8e-5813261
alpha_CA_IXcd031501e-4413261
alpha_CAcd003261.2e-11726258
alpha_CA_IV_XV_likecd031179.3e-5626259
alpha_CA_Vcd031181.5e-10426261
alpha_CA_VIIcd031491.6e-13026261
CahCOG33381.1e-401261
Carb_anhydrasepfam001947.4e-17224261

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs7821248 Polymorphismp.ALA143VALN/A
Swiss-ProtVAR_001379Polymorphismp.GLY254ARGN/A
Swiss-ProtVAR_001378Polymorphismp.HIS68ARGN/A
OMIM114800.0002 Diseasep.ARG246HISCARBONIC ANHYDRASE I DEFICIENCY
OMIM114800.0001 Diseasep.GLY253ARGCARBONIC ANHYDRASE I, GUAM



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