Variant position: 571 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 777 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 SVPDSTWRIMTTLNMLGGRQ VIAAVKWAKAIPGFRNLHLDD
Mouse SVPDSAWRIMTTLNMLGGRQ VIAAVKWAKAIPGFRNLHLDD
Rat SVPDSAWRIMTTLNMLGGRQ VIAAVKWAKAILGLRNLHLDD
Pig SIPDSTWRIMTALNMLGGRQ VIAAVKWAKAIPGFRNLHLDD
Rabbit SVPDSTWRIMTTLNMLGGRQ VIAAVKWAKAIPGFRNLHLDD
Xenopus laevis SIPDTTRRLMSSLNMLGGRQ VVSAVRWAKAIPGFRNLHLDD
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 – 777 Glucocorticoid receptor
524 – 758 NR LBD
485 – 777 Interaction with CLOCK
532 – 697 Interaction with CRY1
491 – 674 Missing. In isoform GR-A alpha and isoform GR-A beta.
585 – 585 R -> A. Reduces activation mediated by ligand binding domain; when associated with A-590.
590 – 590 D -> A. Reduces activation mediated by ligand binding domain; when associated with A-585.
556 – 579
Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene.
Mendonca B.B.; Leite M.V.; de Castro M.; Kino T.; Elias L.L.K.; Bachega T.A.S.; Arnhold I.J.P.; Chrousos G.P.; Latronico A.C.;
J. Clin. Endocrinol. Metab. 87:1805-1809(2002)
Cited for: VARIANT PSEUDOHERMAPHRODITISM ALA-571;
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