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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04150: Variant p.Thr556Ile

Glucocorticoid receptor
Gene: NR3C1
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Variant information Variant position: help 556
Type of variant: help LP/P [Disclaimer]
Residue change: help From Threonine (T) to Isoleucine (I) at position 556 (T556I, p.Thr556Ile).
Physico-chemical properties: help Change from medium size and polar (T) to medium size and hydrophobic (I)
BLOSUM score: help -1
Variant description: help In GCCR; reduces transactivation activity; enhances transrepression activity; reduces affinity for ligand; delays nuclear translocation; does not exert a dominant negative effect; does not impair DNA binding.


Sequence information Variant position: help 556
Protein sequence length: help 777
Location on the sequence: help LEVIEPEVLYAGYDSSVPDS T WRIMTTLNMLGGRQVIAAVK
Residue conservation: help 
Human                         LEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVK

Mouse                         LEVIEPEVLYAGYDSSVPDSAWRIMTTLNMLGGRQVIAAVK

Rat                           LEVIEPEVLYAGYDSSVPDSAWRIMTTLNMLGGRQVIAAVK

Pig                           LEVIEPEVLYAGYDSSIPDSTWRIMTALNMLGGRQVIAAVK

Rabbit                        LEVIEPEVLYAGYDSSVPDSTWRIMTTLNMLGGRQVIAAVK

Xenopus laevis                LEVIEPEVLYSGYDSSIPDTTRRLMSSLNMLGGRQVVSAVR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 777 Glucocorticoid receptor
Domain 524 – 758 NR LBD
Region 485 – 777 Interaction with CLOCK
Region 532 – 697 Interaction with CRY1
Alternative sequence 491 – 674 Missing. In isoform GR-A alpha and isoform GR-A beta.
Helix 556 – 579



Literature citations
Generalized glucocorticoid resistance accompanied with an adrenocortical adenoma and caused by a novel point mutation of human glucocorticoid receptor gene.
Zhu H.J.; Dai Y.F.; Wang O.; Li M.; Lu L.; Zhao W.G.; Xing X.P.; Pan H.; Li N.S.; Gong F.Y.;
Chin. Med. J. 124:551-555(2011)
Cited for: VARIANT GCCR ILE-556; Functional characterization of the hGRalphaT556I causing Chrousos syndrome.
Nicolaides N.C.; Skyrla E.; Vlachakis D.; Psarra A.M.; Moutsatsou P.; Sertedaki A.; Kossida S.; Charmandari E.;
Eur. J. Clin. Invest. 46:42-49(2016)
Cited for: CHARACTERIZATION OF VARIANT GCCR ILE-556;
Disclaimer: 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.