Variant position: 575 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 STWRIMTTLNMLGGRQVIAA VKWAKAIPGFRNLHLDDQMTL
Mouse SAWRIMTTLNMLGGRQVIAA VKWAKAIPGFRNLHLDDQMTL
Rat SAWRIMTTLNMLGGRQVIAA VKWAKAILGLRNLHLDDQMTL
Pig STWRIMTALNMLGGRQVIAA VKWAKAIPGFRNLHLDDQMTL
Rabbit STWRIMTTLNMLGGRQVIAA VKWAKAIPGFRNLHLDDQMTL
Xenopus laevis TTRRLMSSLNMLGGRQVVSA VRWAKAIPGFRNLHLDDQMTL
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
A novel point mutation of the human glucocorticoid receptor gene causes primary generalized glucocorticoid resistance through impaired interaction with the LXXLL motif of the p160 coactivators: dissociation of the transactivating and transreppressive activities.
Nicolaides N.C.; Roberts M.L.; Kino T.; Braatvedt G.; Hurt D.E.; Katsantoni E.; Sertedaki A.; Chrousos G.P.; Charmandari E.;
J. Clin. Endocrinol. Metab. 99:E902-E907(2014)
Cited for: VARIANT GCCR GLY-575; CHARACTERIZATION OF VARIANT GCCR GLY-575;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.