Variant position: 641 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 LCFAPDLIINEQRMTLPCMY DQCKHMLYVSSELHRLQVSYE
Mouse LCFAPDLIINEQRMTLPCMY DQCKHMLFISTELQRLQVSYE
Rat LCFAPDLIINEQRMSLPCMY DQCKHMLFVSSELQRLQVSYE
Pig LCFAPDLVINEQRMALPCMY DQCRHMLYVSSELQRLQVSYE
Rabbit LCFAPDLVINEQRMTLPYMY DQCKHMLFVSSELKRLQVSYE
Xenopus laevis LYFAPDLVITEDRMHLPFMQ ERCQEMLKIAGEMSSLQISYD
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.
625 – 625 P -> A. Decreases transactivation by dexamethasone by 95%.
628 – 628 I -> A. Decreases dimerization and transactivation by dexamethasone; when associated with S-602.
639 – 655
Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance.
Hurley D.M.; Accili D.; Stratakis C.A.; Karl M.; Vamvakopoulos N.; Rorer E.; Constantine K.; Taylor S.I.; Chrousos G.P.;
J. Clin. Invest. 87:680-686(1991)
Cited for: CHARACTERIZATION OF VARIANT GCCR VAL-641;
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.