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Results for the Protein: Q9UH77
13431657

KLHL3_HUMAN RecName: Full=Kelch-like protein 3

Known Diseases associated with this Protein:
  PSEUDOHYPOALDOSTERONISM 2D (PHA2D)
  PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT
  PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT OR RECESSIVE
  PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL RECESSIVE
42
1
12
0
31
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Default View:

BTB - smart00225
BACK - smart00875
BACK - pfam07707
Kelch - smart00612
Kelch_2 - pfam07646


Swiss-Prot Protein: Q9UH77
Identical to: NP_059111
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BTBsmart002251.4e-3051140
BACKsmart008753.8e-46126253
BACKpfam077076.6e-54152252
Kelchsmart006125.2e-11302347
Kelchsmart006121.5e-15348394
Kelchsmart006123.6e-18395441
Kelch_2pfam076461.1e-05430477
Kelchsmart006128e-18442490
Kelch_2pfam076465e-06479524
Kelchsmart006121.9e-18491537
Kelchsmart006122.3e-16538585

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067501Diseasep.ALA77GLUPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067524Diseasep.ALA494THRPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067509Diseasep.ALA340VALPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067515Diseasep.ALA398VALPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067527Diseasep.ARG528CYSPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067512Diseasep.ARG384GLNPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067519Diseasep.ARG431GLNPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067505Diseasep.ARG228GLYPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067528Diseasep.ARG528HISPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067508Diseasep.ARG336ILEPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067511Diseasep.ARG362TRPPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067513Diseasep.ARG384TRPPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067531Diseasep.ARG575TRPPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067529Diseasep.ASN529LYSPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067504Diseasep.CYS164PHEPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067506Diseasep.GLN309ARGPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067503Diseasep.GLU85ALAPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067525Diseasep.GLY500VALPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067514Diseasep.LEU387PROPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067518Diseasep.MET427THRPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067502Diseasep.MET78VALPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067507Diseasep.PHE322CYSPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067517Diseasep.PRO426LEUPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067526Diseasep.PRO501THRPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067520Diseasep.SER432ASNPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067522Diseasep.SER433ASNPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067521Diseasep.SER433GLYPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067516Diseasep.SER410LEUPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067530Diseasep.TYR557CYSPseudohypoaldosteronism 2D (PHA2D)
Swiss-ProtVAR_067523Polymorphismp.VAL438ILEN/A
Swiss-ProtVAR_067510Diseasep.VAL361METPseudohypoaldosteronism 2D (PHA2D)
OMIM605775.0010 Diseasep.ALA398VALPSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT
OMIM605775.0008 Diseasep.ARG528CYSPSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT
OMIM605775.0004 Diseasep.ARG528HISPSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT
OMIM605775.0006 Diseasep.ARG336ILEPSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL RECESSIVE
OMIM605775.0005 Diseasep.ARG240TERPSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL RECESSIVE
OMIM605775.0011 Diseasep.ASN529LYSPSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT
OMIM605775.0002 Diseasep.PHE322CYSPSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL RECESSIVE
OMIM605775.0012 Diseasep.PRO426LEUPSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT
OMIM605775.0009 Diseasep.SER433ASNPSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT
OMIM605775.0003 Diseasep.SER410LEUPSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT OR RECESSIVE
OMIM605775.0001 Diseasep.TRP470TERPSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL RECESSIVE
OMIM605775.0007 Diseasep.TYR557CYSPSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL RECESSIVE



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