Variant position: 112 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 ETETKVMGNDLGFPQQGQIS LSSGETDLKLLEESIANLNRS
Mouse ETETKVMGNDLGYPQQGQLG LSSGETDFRLLEESIANLNRS
Rat ETETKVMGNDLGYPQQGQLG LSSGETDFRLLEESIANLNRS
Pig ETETKVMGSDLGFPQQGQIS LSSGETDFRLLEESIANLSRS
Rabbit ETETKVMGSDLAFPQQGQTS LSSGETDFRLLEESIASLNRS
Xenopus laevis ESDTKVMSSDIAFPSQEQIG ISTGETDFSLLEESIANLQAK
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
98 – 115 Required for high transcriptional activity of isoform Alpha-C3
113 – 113 Phosphoserine
1 – 335 Missing. In isoform Alpha-D3.
1 – 330 Missing. In isoform Alpha-D2.
1 – 315 Missing. In isoform Alpha-D1.
98 – 98 M -> I. Abolishes expression of C-type isoforms; when associated with I-86 and I-90.
101 – 101 D -> A. Reduces transcription activation activity of isoform Alpha-C3 by half.
101 – 101 D -> K. Reduces transcription activation activity of isoform Alpha-C3 by half. Suppresses apoptosis-inducing activity of isoform Alpha-C3. Impairs recruitment of selected coregulators onto DNA binding sites.
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.