UniProtKB/Swiss-Prot P04150: Variant p.Leu112Phe

Glucocorticoid receptor
Gene: NR3C1
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Variant information Variant position:

112 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Leucine (L) to Phenylalanine (F) at position 112 (L112F, p.Leu112Phe). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and hydrophobic (L) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Polymorphism:

Carriers of the 22-Glu-Lys-23 allele are relatively more resistant to the effects of GCs with respect to the sensitivity of the adrenal feedback mechanism than non-carriers, resulting in a better metabolic health profile. Carriers have a better survival than non-carriers, as well as lower serum CRP levels. The 22-Glu-Lys-23 polymorphism is associated with a sex-specific, beneficial body composition at young-adult age, as well as greater muscle strength in males. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs542110718 [ dbSNP | Ensembl ]

Sequence information 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:

ETETKVMGNDLGFPQQGQIS L SSGETDLKLLEESIANLNRS 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                         ETETKVMGNDLGFPQQGQISLSSGETDLKLLEESIANLNRS

Mouse                         ETETKVMGNDLGYPQQGQLGLSSGETDFRLLEESIANLNRS

Rat                           ETETKVMGNDLGYPQQGQLGLSSGETDFRLLEESIANLNRS

Pig                           ETETKVMGSDLGFPQQGQISLSSGETDFRLLEESIANLSRS

Rabbit                        ETETKVMGSDLAFPQQGQTSLSSGETDFRLLEESIASLNRS

Xenopus laevis                ESDTKVMSSDIAFPSQEQIGISTGETDFSLLEESIANLQAK

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
Chain	1 – 777	Glucocorticoid receptor
Region	1 – 420	Modulating
Region	98 – 115	Required for high transcriptional activity of isoform Alpha-C3
Modified residue	113 – 113	Phosphoserine
Alternative sequence	1 – 335	Missing. In isoform Alpha-D3.
Alternative sequence	1 – 330	Missing. In isoform Alpha-D2.
Alternative sequence	1 – 315	Missing. In isoform Alpha-D1.
Mutagenesis	98 – 98	M -> I. Abolishes expression of C-type isoforms; when associated with I-86 and I-90.
Mutagenesis	101 – 101	D -> A. Reduces transcription activation activity of isoform Alpha-C3 by half.
Mutagenesis	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.

Literature citations
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;

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.