Variant position: 979 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 MLVEIISDQLPKVESGNAKP LYFHRK
Mouse MLVEIISDQLPKVESGNAKP LYFHRK
Rat MLVEIITDQLPKVESGNAKP LYFHRK
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.
Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.
Sartorato P.; Lapeyraque A.-L.; Armanini D.; Kuhnle U.; Khaldi Y.; Salomon R.; Abadie V.; Di Battista E.; Naselli A.; Racine A.; Bosio M.; Caprio M.; Poulet-Young V.; Chabrolle J.-P.; Niaudet P.; De Gennes C.; Lecornec M.-H.; Poisson E.; Fusco A.M.; Loli P.; Lombes M.; Zennaro M.-C.;
J. Clin. Endocrinol. Metab. 88:2508-2517(2003)
Cited for: CHARACTERIZATION OF VARIANTS PHA1A ARG-633; ARG-776; PRO-924 AND PRO-979;
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