UniProtKB/Swiss-Prot P04150: Variant p.Asn72Asp

Glucocorticoid receptor
Gene: NR3C1
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Variant information Variant position:

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

US 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 Asparagine (N) to Aspartate (D) at position 72 (N72D, p.Asn72Asp). 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 polar (N) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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
Variant description:

Associated in cis with A-321 and S-766 in one individual; doubles transactivation potential. Any additional useful information about the variant.

Sequence information Variant position:

72 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:

SQSDSKQRRLLVDFPKGSVS N AQQPDLSKAVSLSMGLYMGE 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                         SQSDSKQRRLLV-------DFPKGSVSNA--------------------QQPDLSKAVSLSMGLYMGE

Mouse                         SQADSKQQRILL-------DFSKGSASNA---QQQQQQQQQ

Rat                           SQADSKQQRILL-------DFSKGSTSNVQQRQQQQQQQQQ

Pig                           SQPDSKQQRLAV-------DFPKGSGSNA------------

Rabbit                        AQPDSKQQRLAV-------DFPKGSASNA------------

Xenopus laevis                SQSNTRQQQHFQKQLTATGDSTNGLNNNV------------

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
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.
Mutagenesis	86 – 86	M -> I. Abolishes expression of C-type isoforms; when associated with I-90 and I-98.
Mutagenesis	90 – 90	M -> I. Abolishes expression of C-type isoforms; when associated with I-86 and I-98.

Literature citations
Novel hyperactive glucocorticoid receptor isoform identified within a human population.
Tung K.; Baker A.C.; Amini A.; Green T.L.; Chew V.W.; Lim D.; Nguyen S.T.; Yee K.S.; Cho K.; Greenhalgh D.G.;
Shock 36:339-344(2011)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM ALPHA); VARIANTS ASP-72; ALA-321 AND SER-766; CHARACTERIZATION OF VARIANTS ASP-72; ALA-321 AND SER-766;

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.