Results for the protein: NP

Results for the Protein: NP_001244123

380692310

26249

KLHL3

NCBI

kelch-like protein 3 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT
  PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT OR RECESSIVE
  PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL RECESSIVE

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Default View: BTB - pfam00651 BTB - smart00225 BACK - smart00875 BACK - pfam07707 Kelch_1 - pfam01344 Kelch - smart00612 Kelch_2 - pfam07646	RefSeq Protein: NP_001244123 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Kelch_1	pfam01344	7.7e-06	258	302
Kelch_1	pfam01344	2.4e-14	304	349
Kelch_1	pfam01344	1.2e-15	351	396
Kelch_1	pfam01344	1.2e-17	398	445
Kelch_1	pfam01344	3.4e-16	447	492
Kelch_1	pfam01344	3.3e-16	494	539
BTB	smart00225	1.4e-30	19	108
BACK	smart00875	3.8e-46	94	221
BACK	pfam07707	6.6e-54	120	220
Kelch	smart00612	5.2e-11	270	315
Kelch	smart00612	1.5e-15	316	362
Kelch	smart00612	3.6e-18	363	409
Kelch_2	pfam07646	1.1e-05	398	445
Kelch	smart00612	8e-18	410	458
Kelch_2	pfam07646	5e-06	447	492
Kelch	smart00612	1.9e-18	459	505
Kelch	smart00612	2.3e-16	506	553

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	605775.0010	Disease	p.ALA366VAL	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT
OMIM	605775.0008	Disease	p.ARG496CYS	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT
OMIM	605775.0004	Disease	p.ARG496HIS	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT
OMIM	605775.0006	Disease	p.ARG304ILE	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL RECESSIVE
OMIM	605775.0005	Disease	p.ARG208TER	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL RECESSIVE
OMIM	605775.0011	Disease	p.ASN497LYS	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT
OMIM	605775.0002	Disease	p.PHE290CYS	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL RECESSIVE
OMIM	605775.0012	Disease	p.PRO394LEU	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT
OMIM	605775.0009	Disease	p.SER401ASN	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT
OMIM	605775.0003	Disease	p.SER378LEU	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT OR RECESSIVE
OMIM	605775.0001	Disease	p.TRP438TER	PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL RECESSIVE
OMIM	605775.0007	Disease	p.TYR525CYS	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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