Variant position: 645 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 VFFKRAVEGQHNYLCAGRND CIIDKIRRKNCPACRLQKCLQ
Mouse VFFKRAVE--HNYLCAGRND CIIDKIRRKNCPACRLQKCLQ
Rat VFFKRAVEGQHNYLCAGRND CIIDKIRRKNCPACRLQKCLQ
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
603 – 668 Nuclear receptor
639 – 663 NR C4-type
633 – 633 G -> GKCSW. In isoform 3.
Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.
Pujo L.; Fagart J.; Gary F.; Papadimitriou D.T.; Claes A.; Jeunemaitre X.; Zennaro M.-C.;
Hum. Mutat. 28:33-40(2007)
Cited for: VARIANTS PHA1A SER-645; SER-659; SER-759; PRO-769; LYS-770; PRO-805 AND ARG-815;
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