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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10275: Variant p.Gly709Ala

Androgen receptor
Gene: AR
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Variant information Variant position: help 709 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Glycine (G) to Alanine (A) at position 709 (G709A, p.Gly709Ala). 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: help Change from glycine (G) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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

Variant description: help In PAIS. Any additional useful information about the variant.


Sequence information Variant position: help 709 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 920 The length of the canonical sequence.
Location on the sequence: help GHDNNQPDSFAALLSSLNEL G ERQLVHVVKWAKALPGFRNL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         GHDNNQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNL

                              GHDNNQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNL

Rhesus macaque                GHDNNQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNL

Chimpanzee                    GHDNNQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNL

Mouse                         GHDNNQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNL

Rat                           GHDNNQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNL

Pig                           GHDNNQPDSFAALLSSLNELGERQLVHVVKWAKALPGFRNL

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 920 Androgen receptor
Domain 669 – 900 NR LBD
Region 552 – 919 Interaction with LPXN
Region 592 – 919 Interaction with CCAR1
Region 625 – 919 Interaction with KAT7
Binding site 706 – 706
Site 721 – 721 Interaction with coactivator LXXL and FXXFY motifs
Alternative sequence 645 – 920 Missing. In isoform 3.
Alternative sequence 649 – 920 Missing. In isoform 4.
Mutagenesis 702 – 702 L -> A. Alters receptor specificity, so that transcription is activated by the antiandrogen cyproterone acetate.
Mutagenesis 721 – 721 K -> A. Loss of transcription activation in the presence of androgen and of interaction with NCOA2.
Helix 698 – 721



Literature citations
Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis.
Hiort O.; Wodtke A.; Struve D.; Zoellner A.; Sinnecker G.H.;
Hum. Mol. Genet. 3:1163-1166(1994)
Cited for: VARIANTS PAIS SER-583; TYR-605; ALA-709; LEU-755 AND HIS-772; VARIANT AIS TRP-780; Etiologic classification of severe hypospadias: implications for prognosis and management.
Albers N.; Ulrichs C.; Gluer S.; Hiort O.; Sinnecker G.H.; Mildenberger H.; Brodehl J.;
J. Pediatr. 131:386-392(1997)
Cited for: VARIANTS PAIS ALA-709 AND GLY-871;
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.