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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10275: Variant p.Arg753Gln

Androgen receptor
Gene: AR
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Variant information Variant position: help 753 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 Arginine (R) to Glutamine (Q) at position 753 (R753Q, p.Arg753Gln). 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 large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In AIS. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 753 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 DQMAVIQYSWMGLMVFAMGW R SFTNVNSRMLYFAPDLVFNE 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                         DQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFNE

                              DQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFNE

Rhesus macaque                DQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFNE

Chimpanzee                    DQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFNE

Mouse                         DQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFNE

Rat                           DQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFNE

Pig                           DQMAVIQYSWMGLMVFAMGWRSFTNVNSRMLYFAPDLVFNE
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 753 – 753
Alternative sequence 645 – 920 Missing. In isoform 3.
Alternative sequence 649 – 920 Missing. In isoform 4.
Mutagenesis 742 – 742 W -> L. Strongly decreased transcription activation in the presence of androgen.
Helix 731 – 758



Literature citations
Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity.
Komori S.; Kasumi H.; Sakata K.; Tanaka H.; Hamada K.; Koyama K.;
Arch. Gynecol. Obstet. 261:95-100(1998)
Cited for: VARIANTS AIS CYS-572; GLN-753 AND CYS-775; Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism.
Cabral D.F.; Maciel-Guerra A.T.; Hackel C.;
Braz. J. Med. Biol. Res. 31:775-778(1998)
Cited for: VARIANTS AIS HIS-616 AND GLN-753;
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.