Variant position: 753 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 LNYCFQTFLDKTMSIEFPEM LAEIITNQIPKYSNGNIKKLL
Mouse LSYCFQTFLDKSMSIEFPEM LAEIITNQIPKYSNGNIKKLL
Rat LTYCFQTFLDKTMSIEFPEM LAEIITNQIPKYSNGNIKKLL
Pig LNYCFQTFLDKTMSIEFPEM LAEIITNQLPKYSSGNIKKLL
Rabbit LHYCFQTFLDKTMSIEFPEM LAEIITNQIPKYSNGNIKKLL
Xenopus laevis LAFCFLSFLDKSMSIEFPDM LSEIISNQIPKYSSGNLKKLL
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.
751 – 765
Cloning and expression of mutant glucocorticoid receptors from glucocorticoid-sensitive and -resistant human leukemic cells.
Powers J.H.; Hillmann A.G.; Tang D.C.; Harmon J.M.;
Cancer Res. 53:4059-4065(1993)
Cited for: VARIANTS TYR-421 AND PHE-753;
Identification of the activation-labile gene: a single point mutation in the human glucocorticoid receptor presents as two distinct receptor phenotypes.
Ashraf J.; Thompson E.B.;
Mol. Endocrinol. 7:631-642(1993)
Cited for: VARIANT PHE-753;
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.