Variant position: 747 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 EVVENLLNYCFQTFLDKTMS IEFPEMLAEIITNQIPKYSNG
Mouse DVVENLLSYCFQTFLDKSMS IEFPEMLAEIITNQIPKYSNG
Rat EVVENLLTYCFQTFLDKTMS IEFPEMLAEIITNQIPKYSNG
Pig DVVENLLNYCFQTFLDKTMS IEFPEMLAEIITNQLPKYSSG
Rabbit EVVENLLHYCFQTFLDKTMS IEFPEMLAEIITNQIPKYSNG
Xenopus laevis EVAENLLAFCFLSFLDKSMS IEFPDMLSEIISNQIPKYSSG
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.
A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators.
Vottero A.; Kino T.; Combe H.; Lecomte P.; Chrousos G.P.;
J. Clin. Endocrinol. Metab. 87:2658-2667(2002)
Cited for: VARIANT GCCR MET-747; ALTERED INTERACTION WITH THE COACTIVATOR NCOA2;
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.