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Results for the Protein: NP_000892
158508572

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 ↕
ZnF_C4smart003993.8e-35602671
HOLIsmart004304.5e-36773934

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs5526 Polymorphismp.ARG537GLNN/A
dbSNPrs5527 Polymorphismp.ASN554SERN/A
dbSNPrs5523 Polymorphismp.ASN444THRN/A
dbSNPrs5522 Polymorphismp.VAL180ILEN/A
OMIM600983.0003 Diseasep.ARG537TERPSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM600983.0015 Diseasep.ARG947TERPSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM600983.0010 Diseasep.CYS645TERPSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM600983.0011 Diseasep.GLN776ARGPSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM600983.0012 Diseasep.GLY633ARGPSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM600983.0007 Diseasep.LEU924PROPSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM600983.0013 Diseasep.LEU979PROPSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
OMIM600983.0005 Diseasep.SER810LEUHYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN||PREGNANCY
OMIM600983.0014 Diseasep.SER163TERPSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT



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