Variant position: 729 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 SQNWQRFYQLTKLLDSMHEV VENLLNYCFQTFLDKTMSIEF
Mouse SQNWQRFYQLTKLLDSMHDV VENLLSYCFQTFLDKSMSIEF
Rat SQNWQRFYQLTKLLDSMHEV VENLLTYCFQTFLDKTMSIEF
Pig SQNWQRFYQLTKLLDSMHDV VENLLNYCFQTFLDKTMSIEF
Rabbit SQNWQRFYQLTKLLDSMHEV VENLLHYCFQTFLDKTMSIEF
Xenopus laevis SQNWQRFYQLTKLLDSMHEV AENLLAFCFLSFLDKSMSIEF
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 mutation of the glucocorticoid receptor in primary cortisol resistance.
Malchoff D.M.; Brufsky A.; Reardon G.; McDermott P.; Javier E.C.; Bergh C.H.; Rowe D.; Malchoff C.D.;
J. Clin. Invest. 91:1918-1925(1993)
Cited for: VARIANT GCCR ILE-729;
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