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Results for the Protein: P35523
311033468

CLCN1_HUMAN RecName: Full=Chloride channel protein 1; Short=ClC-1; AltName: Full=Chloride channel protein, skeletal muscle

Known Diseases associated with this Protein:
  MYOTONIA CONGENITA, AUTOSOMAL DOMINANT (MCD)
  MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (MCR)
30
5
0
0
35
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Default View:

EriC - COG0038
ClC_6_like - cd03685
ClC_1_like - cd03683
ClC_3_like - cd03684
EriC - cd01031
ClC_euk - cd01036
Voltage_gated_ClC - cd00400
EriC_like - cd01034
Voltage_CLC - pfam00654
CBS - pfam00571
CBS_pair_EriC_assoc_ - cd04591


Swiss-Prot Protein: P35523
   Default View:











Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EriCCOG00382e-2794597
ClC_6_likecd036851.2e-1996640
ClC_1_likecd03683117592
ClC_3_likecd036845.6e-23118590
EriCcd010311.7e-10124583
Voltage_gated_ClCcd004009.8e-50125567
ClC_eukcd010363.6e-156125579
EriC_likecd010348.7e-09138579
CBS_pair_EriC_assoc_cd045912.3e-09753869
Voltage_CLCpfam006541.3e-82170572
CBSpfam005710.0006605663

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_001599Diseasep.ALA313THRMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001606Polymorphismp.ALA437THRN/A
Swiss-ProtVAR_001605Diseasep.ALA415VALMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001582Diseasep.ARG105CYSMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001597Polymorphismp.ARG300GLNN/A
Swiss-ProtVAR_001600Diseasep.ARG317GLNMyotonia congenita, autosomal dominant (MCD)
Swiss-ProtVAR_001603Diseasep.ARG338GLNMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001610Diseasep.ARG496SERMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001584Diseasep.ASP136GLYMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001611Diseasep.GLN552ARGMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001596Diseasep.GLU291LYSMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_036300Polymorphismp.GLU548LYSN/A
Swiss-ProtVAR_001589Diseasep.GLY200ARGMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001608Diseasep.GLY482ARGMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001590Diseasep.GLY230GLUMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001593Diseasep.GLY285GLUMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001583Polymorphismp.GLY118TRPN/A
Swiss-ProtVAR_001612Diseasep.ILE556ASNMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001595Diseasep.ILE290METMyotonia congenita, autosomal dominant (MCD)
Swiss-ProtVAR_001602Diseasep.ILE329THRMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001609Diseasep.MET485VALMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001604Diseasep.PHE413CYSMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001588Diseasep.PHE167LEUMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001614Diseasep.PHE708LEUMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001598Diseasep.PHE307SERMyotonia congenita, autosomal dominant (MCD)
Swiss-ProtVAR_001586Diseasep.PHE161VALMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001607Diseasep.PRO480LEUMyotonia congenita, autosomal dominant (MCD)
Swiss-ProtVAR_047779Polymorphismp.PRO727LEUN/A
Swiss-ProtVAR_001585Diseasep.TYR150CYSMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001592Diseasep.TYR261CYSMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001594Diseasep.VAL286ALAMyotonia congenita, autosomal dominant (MCD)
Swiss-ProtVAR_001587Diseasep.VAL165GLYMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001601Diseasep.VAL327ILEMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001613Diseasep.VAL563ILEMyotonia congenita, autosomal recessive (MCR)
Swiss-ProtVAR_001591Diseasep.VAL236LEUMyotonia congenita, autosomal recessive (MCR)



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