Variant position: 233 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 WRSDLLIDENC--LLSPLAGED DSFLLEGNS-NEDCKPLILPDT
Mouse WRSDLLIDEN---LLSPLAGED DPFLLEGDV-NEDCKPLIL
Rat WRSDLLIDEN---LLSPLAGED DPFLLEGNT-NEDCKPLIL
Pig WSSDLLIDENC--LLSPLAGEE DPFLLEGSS-TEDCKPLVL
Rabbit WRSDLLMDENC--LLSPLAGED DPFLLEGNS-SEDCKPLIL
Xenopus laevis WLDPLFDEQEAFNLLSPL-GTG DPFFMKSEVLSEGSKTLSL
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
1 – 420 Modulating
226 – 226 Phosphoserine
1 – 335 Missing. In isoform Alpha-D3.
1 – 330 Missing. In isoform Alpha-D2.
1 – 315 Missing. In isoform Alpha-D1.
213 – 213 W -> A. Strongly reduces transactivation by the ADA complex.
224 – 224 L -> V. Strongly reduces transactivation by the ADA complex; when associated with A-194 and F-225.
225 – 225 L -> F. Strongly reduces transactivation by the ADA complex; when associated with A-194 and V-224.
226 – 226 S -> A. Abolishes phosphorylation and enhances transcriptional activation.
235 – 235 F -> L. Strongly reduces transactivation by the ADA complex; when associated with V-236.
236 – 236 L -> V. Strongly reduces transactivation by the ADA complex; when associated with L-235.
Five missense variants in the amino-terminal domain of the glucocorticoid receptor: no association with puerperal psychosis or schizophrenia.
Feng J.; Zheng J.; Bennett W.P.; Heston L.L.; Jones I.R.; Craddock N.; Sommer S.S.;
Am. J. Med. Genet. 96:412-417(2000)
Cited for: VARIANTS LYS-23; LEU-29; PHE-112; ASN-233 AND SER-363;
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.