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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04150: Variant p.Asn72Asp

Glucocorticoid receptor
Gene: NR3C1
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Variant information Variant position: help 72
Type of variant: help US
Residue change: help From Asparagine (N) to Aspartate (D) at position 72 (N72D, p.Asn72Asp).
Physico-chemical properties: help Change from medium size and polar (N) to medium size and acidic (D)
BLOSUM score: help 1
Variant description: help Associated in cis with A-321 and S-766 in one individual; doubles transactivation potential.


Sequence information Variant position: help 72
Protein sequence length: help 777
Location on the sequence: help SQSDSKQRRLLVDFPKGSVS N AQQPDLSKAVSLSMGLYMGE
Residue conservation: help 
Human                         SQSDSKQRRLLV-------DFPKGSVSNA--------------------QQPDLSKAVSLSMGLYMGE

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

Rat                           SQADSKQQRILL-------DFSKGSTSNVQQRQQQQQQQQQ

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

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

Xenopus laevis                SQSNTRQQQHFQKQLTATGDSTNGLNNNV------------
Sequence annotation in neighborhood: help
TypePositionsDescription
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.