Results for the protein: Q9UH77

Results for the Protein: Q9UH77

13431657

26249

KLHL3

NCBI, UniProt

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

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: 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 ↕
BACK	smart00875	3.8e-46	126	253
BACK	pfam07707	6.6e-54	152	252
Kelch	smart00612	5.2e-11	302	347
Kelch	smart00612	1.5e-15	348	394
Kelch	smart00612	3.6e-18	395	441
Kelch_2	pfam07646	1.1e-05	430	477
Kelch	smart00612	8e-18	442	490
Kelch_2	pfam07646	5e-06	479	524
Kelch	smart00612	1.9e-18	491	537
Kelch	smart00612	2.3e-16	538	585

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067501	Disease	p.ALA77GLU	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067524	Disease	p.ALA494THR	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067509	Disease	p.ALA340VAL	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067515	Disease	p.ALA398VAL	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067527	Disease	p.ARG528CYS	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067512	Disease	p.ARG384GLN	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067519	Disease	p.ARG431GLN	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067505	Disease	p.ARG228GLY	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067528	Disease	p.ARG528HIS	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067508	Disease	p.ARG336ILE	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067511	Disease	p.ARG362TRP	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067513	Disease	p.ARG384TRP	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067531	Disease	p.ARG575TRP	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067529	Disease	p.ASN529LYS	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067504	Disease	p.CYS164PHE	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067506	Disease	p.GLN309ARG	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067503	Disease	p.GLU85ALA	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067525	Disease	p.GLY500VAL	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067514	Disease	p.LEU387PRO	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067518	Disease	p.MET427THR	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067502	Disease	p.MET78VAL	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067507	Disease	p.PHE322CYS	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067517	Disease	p.PRO426LEU	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067526	Disease	p.PRO501THR	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067520	Disease	p.SER432ASN	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067522	Disease	p.SER433ASN	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067521	Disease	p.SER433GLY	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067516	Disease	p.SER410LEU	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067530	Disease	p.TYR557CYS	Pseudohypoaldosteronism 2D (PHA2D)
Swiss-Prot	VAR_067523	Polymorphism	p.VAL438ILE	N/A
Swiss-Prot	VAR_067510	Disease	p.VAL361MET	Pseudohypoaldosteronism 2D (PHA2D)
OMIM	605775.0010	Disease	p.ALA398VAL	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT
OMIM	605775.0008	Disease	p.ARG528CYS	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT
OMIM	605775.0004	Disease	p.ARG528HIS	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT
OMIM	605775.0006	Disease	p.ARG336ILE	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL RECESSIVE
OMIM	605775.0005	Disease	p.ARG240TER	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL RECESSIVE
OMIM	605775.0011	Disease	p.ASN529LYS	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT
OMIM	605775.0002	Disease	p.PHE322CYS	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL RECESSIVE
OMIM	605775.0012	Disease	p.PRO426LEU	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT
OMIM	605775.0009	Disease	p.SER433ASN	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT
OMIM	605775.0003	Disease	p.SER410LEU	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT OR RECESSIVE
OMIM	605775.0001	Disease	p.TRP470TER	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL RECESSIVE
OMIM	605775.0007	Disease	p.TYR557CYS	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL RECESSIVE

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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