Results for the protein: NP

Results for the Protein: NP_000892

158508572

4306

NR3C2

NCBI

mineralocorticoid receptor isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
  HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN
  PREGNANCY
  PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT

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4

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Default View: ZnF_C4 - smart00399 HOLI - smart00430	RefSeq Protein: NP_000892 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HOLI	smart00430	4.5e-36	773	934

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs5526	Polymorphism	p.ARG537GLN	N/A
dbSNP	rs5527	Polymorphism	p.ASN554SER	N/A
dbSNP	rs5523	Polymorphism	p.ASN444THR	N/A
dbSNP	rs5522	Polymorphism	p.VAL180ILE	N/A
OMIM	600983.0003	Disease	p.ARG537TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	600983.0015	Disease	p.ARG947TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	600983.0010	Disease	p.CYS645TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	600983.0011	Disease	p.GLN776ARG	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	600983.0012	Disease	p.GLY633ARG	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	600983.0007	Disease	p.LEU924PRO	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	600983.0013	Disease	p.LEU979PRO	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM	600983.0005	Disease	p.SER810LEU	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN\|\|PREGNANCY
OMIM	600983.0014	Disease	p.SER163TER	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT

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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