Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P56696
259016259

KCNQ4_HUMAN RecName: Full=Potassium voltage-gated channel subfamily KQT member 4; AltName: Full=KQT-like 4; AltName: Full=Potassium channel subunit alpha KvLQT4; AltName: Full=Voltage-gated potassium channel subunit Kv7.4

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL DOMINANT 2A
  DEAFNESS, AUTOSOMAL DOMINANT, 2A (DFNA2A)
14
1
7
1
7
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

Ion_trans - pfam00520
Ion_trans_2 - pfam07885
KCNQ_channel - pfam03520


Swiss-Prot Protein: P56696
Identical to: NP_004691
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ion_transpfam005206.2e-36134318
KCNQ_channelpfam035204e-112462658
Ion_trans_2pfam078852.5e-16243319

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065779Diseasep.GLY287ARGDeafness, autosomal dominant, 2A (DFNA2A)
Swiss-ProtVAR_008727Diseasep.GLY285CYSDeafness, autosomal dominant, 2A (DFNA2A)
Swiss-ProtVAR_001547Diseasep.GLY285SERDeafness, autosomal dominant, 2A (DFNA2A)
Swiss-ProtVAR_008728Diseasep.GLY321SERDeafness, autosomal dominant, 2A (DFNA2A)
dbSNPrs34287852 Polymorphismp.HIS455GLNN/A
Swiss-ProtVAR_010936Diseasep.LEU274HISDeafness, autosomal dominant, 2A (DFNA2A)
Swiss-ProtVAR_010937Diseasep.LEU281SERDeafness, autosomal dominant, 2A (DFNA2A)
Swiss-ProtVAR_008726Diseasep.TRP276SERDeafness, autosomal dominant, 2A (DFNA2A)
OMIM603537.0004 Diseasep.GLY285CYSDEAFNESS, AUTOSOMAL DOMINANT 2A
OMIM603537.0001 Diseasep.GLY285SERDEAFNESS, AUTOSOMAL DOMINANT 2A
OMIM603537.0009 Diseasep.GLY296SERDEAFNESS, AUTOSOMAL DOMINANT 2A
OMIM603537.0003 Diseasep.GLY321SERDEAFNESS, AUTOSOMAL DOMINANT 2A
OMIM603537.0007 Diseasep.LEU274HISDEAFNESS, AUTOSOMAL DOMINANT 2A
OMIM603537.0006 Diseasep.LEU281SERDEAFNESS, AUTOSOMAL DOMINANT 2A
OMIM603537.0002 Diseasep.TRP276SERDEAFNESS, AUTOSOMAL DOMINANT 2A



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258