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Results for the Protein: P35219
461681
767
CA8

CAH8_HUMAN RecName: Full=Carbonic anhydrase-related protein; Short=CARP; AltName: Full=Carbonic anhydrase VIII; Short=CA-VIII

Known Diseases associated with this Protein:
  CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL
  CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3 (CMARQ3)
  LOCOMOTION 3
3
0
2
0
1
Tips:
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Default View:

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


Swiss-Prot Protein: P35219
Identical to: NP_004047
   Default View:

















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
alpha_CA_I_II_III_XIcd031193.3e-7925289
alpha_CA_prokaryoticcd031246.6e-3725287
alpha_CARP_receptor_cd031225.9e-4933287
alpha_CA_VI_IX_XII_Xcd031233.9e-4633289
alpha_CA_VIcd031256.6e-2733290
alpha_CA_IXcd031503.4e-3533290
alpha_CARP_VIIIcd031201e-23434289
alpha_CA_XII_XIVcd031263.1e-4336289
alpha_CARP_X_XI_likecd031213.1e-3537290
alpha_CAcd003264.8e-10446286
alpha_CA_IV_XV_likecd031173.7e-5046287
alpha_CA_Vcd031182e-6346289
alpha_CA_VIIcd031497.1e-7146289
CahCOG33383e-141289
Carb_anhydrasepfam001941.1e-15844289

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063634Diseasep.SER100PROCerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3)
OMIM114815.0002 Diseasep.ARG237GLNCEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL||LOCOMOTION 3
OMIM114815.0001 Diseasep.SER100PROCEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL||LOCOMOTION 3



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