UniProtKB/Swiss-Prot P04150 : Variant p.Arg23Lys
Glucocorticoid receptor
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Variant information
Variant position:
23
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
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:
23 (R23K, p.Arg23Lys).
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:
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
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).following page
Polymorphism:
Additional information on the polymorphism described.
Variant description:
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
23
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:
R GDVMDFYKTLRGGATVKVSA
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 SKESLTP--GREENPSSVL-AQER GDVMDFYKTLRGGATVKVSA
Mouse SKESLAP-PGRDEVPSSLL-GRGR GSVMDLYKTLRGGATVK
Rat SKESLAP-PGRDEVPGSLL-GQGR GSVMDFYKSLRGGATVK
Pig PKESLTP-PSREEIPSSVL-GRER AHVMDFYKSLRGGTPVK
Rabbit SKESLSP-PGREEVPSSVLRPAER GNVMDLYKTLRGGAPVR
Xenopus laevis PKDLLKPSSGSPAVRGSPHYNDKP GNVIEFFGNYRGGVSVS
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
1 – 23 Disordered
Modified residue
8 – 8 Phosphothreonine
Modified residue
23 – 23 Omega-N-methylarginine
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.
Alternative sequence
1 – 97 Missing. In isoform Alpha-C3.
Alternative sequence
1 – 89 Missing. In isoform Alpha-C2.
Alternative sequence
1 – 85 Missing. In isoform Alpha-C1.
Alternative sequence
1 – 26 Missing. In isoform Alpha-B and isoform Beta-B.
Mutagenesis
27 – 27 M -> T. Abolishes expression of B-type isoforms.
Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LYS-23 AND VAL-65;
Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance.
Koper J.W.; Stolk R.P.; de Lange P.; Huizenga N.A.T.M.; Molijn G.-J.; Pols H.A.P.; Grobbee D.E.; Karl M.; de Jong F.H.; Brinkmann A.O.; Lamberts S.W.J.;
Hum. Genet. 99:663-668(1997)
Cited for: VARIANTS LYS-23 AND SER-363;
Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS LYS-23; VAL-65 AND SER-363;
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;
A polymorphism in the glucocorticoid receptor gene, which decreases sensitivity to glucocorticoids in vivo, is associated with low insulin and cholesterol levels.
van Rossum E.F.C.; Koper J.W.; Huizenga N.A.T.M.; Uitterlinden A.G.; Janssen J.A.M.J.L.; Brinkmann A.O.; Grobbee D.E.; de Jong F.H.; van Duyn C.M.; Pols H.A.P.; Lamberts S.W.J.;
Diabetes 51:3128-3134(2002)
Cited for: VARIANT LYS-23;
Association of the ER22/23EK polymorphism in the glucocorticoid receptor gene with survival and C-reactive protein levels in elderly men.
van Rossum E.F.C.; Feelders R.A.; van den Beld A.W.; Uitterlinden A.G.; Janssen J.A.M.J.L.; Ester W.; Brinkmann A.O.; Grobbee D.E.; de Jong F.H.; Pols H.A.P.; Koper J.W.; Lamberts S.W.J.;
Am. J. Med. 117:158-162(2004)
Cited for: VARIANT LYS-23;
The ER22/23EK polymorphism in the glucocorticoid receptor gene is associated with a beneficial body composition and muscle strength in young adults.
van Rossum E.F.C.; Voorhoeve P.G.; te Velde S.J.; Koper J.W.; Delemarre-van de Waal H.A.; Kemper H.C.G.; Lamberts S.W.J.;
J. Clin. Endocrinol. Metab. 89:4004-4009(2004)
Cited for: VARIANT LYS-23;
Two polymorphisms in the glucocorticoid receptor gene directly affect glucocorticoid-regulated gene expression.
Russcher H.; Smit P.; van den Akker E.L.; van Rossum E.F.; Brinkmann A.O.; de Jong F.H.; Lamberts S.W.; Koper J.W.;
J. Clin. Endocrinol. Metab. 90:5804-5810(2005)
Cited for: VARIANTS LYS-23 AND SER-363; CHARACTERIZATION OF VARIANTS LYS-23 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.
