Variant position: 972 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 984 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human LKVEFPAMLVEIISDQLPKV ESGNAKPLYFHRK
Mouse LKVEFPAMLVEIISDQLPKV ESGNAKPLYFHRK
Rat LKVEFPAMLVEIITDQLPKV ESGNAKPLYFHRK
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 984 Mineralocorticoid receptor
733 – 984 Steroid-binding
707 – 984 Missing. In isoform 2.
952 – 952 L -> A. Reduces transcription transactivation.
953 – 953 K -> A. Slightly reduces aldosterone binding and abolishes transcription transactivation.
954 – 954 V -> A. Reduces aldosterone binding and abolishes transcription transactivation.
956 – 956 F -> A. Abolishes aldosterone binding and transcription transactivation.
957 – 957 P -> A. Slightly reduces aldosterone binding and transcription transactivation.
958 – 972
Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.
Riepe F.G.; Finkeldei J.; de Sanctis L.; Einaudi S.; Testa A.; Karges B.; Peter M.; Viemann M.; Groetzinger J.; Sippell W.G.; Fejes-Toth G.; Krone N.;
J. Clin. Endocrinol. Metab. 91:4552-4561(2006)
Cited for: CHARACTERIZATION OF VARIANTS PHA1A LEU-818 AND GLY-972;
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