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Results for the Protein: P51788
288558807

CLCN2_HUMAN RecName: Full=Chloride channel protein 2; Short=ClC-2

Known Diseases associated with this Protein:
  EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
  EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
3
13
3
1
12
Tips:
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Default View:

ClC_6_like - cd03685
EriC - COG0038
ClC_1_like - cd03683
EriC - cd01031
ClC_3_like - cd03684
ClC_euk - cd01036
Voltage_gated_ClC - cd00400
EriC_like - cd01034
ClC_like - cd01033
Voltage_CLC - pfam00654
CBS_pair_EriC_assoc_ - cd04591


Swiss-Prot Protein: P51788
Identical to: NP_004357
   Default View:












Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ClC_6_likecd036855.7e-2160608
EriCCOG00384.6e-3075572
ClC_1_likecd0368390567
EriCcd010312.3e-1197558
Voltage_gated_ClCcd004003.4e-9098542
ClC_eukcd010362.7e-24298554
ClC_3_likecd036845.1e-3498565
EriC_likecd010341.9e-10102554
ClC_likecd010330.00035125550
CBS_pair_EriC_assoc_cd045912e-22706838
Voltage_CLCpfam006548.5e-106143547

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_057891Polymorphismp.ARG644CYSN/A
Swiss-ProtVAR_057889Polymorphismp.ARG235GLNN/A
Swiss-ProtVAR_057890Polymorphismp.ARG577GLNN/A
Swiss-ProtVAR_057892Polymorphismp.ARG646GLNN/A
Swiss-ProtVAR_057887Polymorphismp.ARG68HISN/A
Swiss-ProtVAR_057894Polymorphismp.ARG747HISN/A
Swiss-ProtVAR_057893Polymorphismp.ARG725TRPN/A
Swiss-ProtVAR_054551Polymorphismp.GLU718ASPN/A
Swiss-ProtVAR_057888Polymorphismp.GLY199ALAN/A
Swiss-ProtVAR_015989Polymorphismp.GLY715GLUN/A
Swiss-ProtVAR_057886Polymorphismp.PRO48ARGN/A
Swiss-ProtVAR_058426Polymorphismp.SER719LEUN/A
dbSNPrs9820367 Polymorphismp.THR668SERN/A
OMIM600570.0004 Diseasep.ARG235GLNEPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
OMIM600570.0005 Diseasep.ARG577GLNEPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
OMIM600570.0003 Diseasep.GLY715GLURECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE



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