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Results for the Protein: P51800
1705857

CLCKA_HUMAN RecName: Full=Chloride channel protein ClC-Ka; Short=Chloride channel Ka; AltName: Full=ClC-K1

Known Diseases associated with this Protein:
  BARTTER SYNDROME 4B (BS4B)
  BARTTER SYNDROME, TYPE 4B
3
13
2
9
5
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

ClC_6_like - cd03685
EriC - COG0038
ClC_1_like - cd03683
EriC - cd01031
ClC_euk - cd01036
ClC_3_like - cd03684
Voltage_gated_ClC - cd00400
EriC_like - cd01034
Voltage_CLC - pfam00654
CBS_pair - cd02205
CBS - pfam00571
CBS_pair_EriC_assoc_ - cd04591
CBS - smart00116


Swiss-Prot Protein: P51800
Identical to: NP_004061
   Default View:












Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ClC_6_likecd036857.6e-1330582
EriCCOG00384.1e-1137540
ClC_1_likecd036835.8e-30249534
EriCcd010312.6e-0856525
Voltage_gated_ClCcd004006e-7457513
ClC_eukcd010362.1e-21457521
ClC_3_likecd036843.5e-1957532
EriC_likecd010343.3e-0761521
CBS_paircd022057.7e-09471602
CBS_pair_EriC_assoc_cd045915.3e-21552676
Voltage_CLCpfam006542.7e-76102514
CBSpfam005711.8e-06547605
CBSsmart001167.3e-05554604

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1805152 Polymorphismp.ALA447THRN/A
Swiss-ProtVAR_033769Polymorphismp.ALA287VALN/A
dbSNPrs10927887 Polymorphismp.ARG83GLYN/A
Swiss-ProtVAR_033768Polymorphismp.ARG45HISN/A
Swiss-ProtVAR_048695Polymorphismp.ARG8HISN/A
dbSNPrs12140223 Polymorphismp.ARG534TRPN/A
dbSNPrs79751787 Polymorphismp.HIS357GLNN/A
Swiss-ProtVAR_030784Polymorphismp.MET67ILEN/A
dbSNPrs12746751 Polymorphismp.PRO683LEUN/A
dbSNPrs34471231 Polymorphismp.THR454ALAN/A
dbSNPrs139001368 Polymorphismp.THR577ALAN/A
Swiss-ProtVAR_063074Diseasep.TRP80CYSBartter syndrome 4B (BS4B)
dbSNPrs12126269 Polymorphismp.TYR315PHEN/A
dbSNPrs35747151 Polymorphismp.VAL457ILEN/A
OMIM602024.0001 Diseasep.CYS80TRPBARTTER SYNDROME, TYPE 4B
OMIM602024.0002 Diseasep.GLN260TERBARTTER SYNDROME, TYPE 4B



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