Variant position: 737 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 QLTKLLDSMHEVVENLLNYC FQTFLDKTMSIEFPEMLAEII
Mouse QLTKLLDSMHDVVENLLSYC FQTFLDKSMSIEFPEMLAEII
Rat QLTKLLDSMHEVVENLLTYC FQTFLDKTMSIEFPEMLAEII
Pig QLTKLLDSMHDVVENLLNYC FQTFLDKTMSIEFPEMLAEII
Rabbit QLTKLLDSMHEVVENLLHYC FQTFLDKTMSIEFPEMLAEII
Xenopus laevis QLTKLLDSMHEVAENLLAFC FLSFLDKSMSIEFPDMLSEII
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
728 – 777 VVENLLNYCFQTFLDKTMSIEFPEMLAEIITNQIPKYSNGNIKKLLFHQK -> NVMWLKPESTSHTLI. In isoform Beta, isoform Beta-B, isoform Beta-2 and isoform GR-A beta.
708 – 741
A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance.
Charmandari E.; Kino T.; Ichijo T.; Jubiz W.; Mejia L.; Zachman K.; Chrousos G.P.;
J. Clin. Endocrinol. Metab. 92:3986-3990(2007)
Cited for: VARIANT GCCR LEU-737; CHARACTERIZATION OF VARIANT GCCR LEU-737; FUNCTION (ISOFORM ALPHA); INTERACTION WITH GRIP1; SUBCELLULAR LOCATION (ISOFORM ALPHA);
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.