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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10275: Variant p.Ser207Arg

Androgen receptor
Gene: AR
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Variant information Variant position: help 207 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Serine (S) to Arginine (R) at position 207 (S207R, p.Ser207Arg). 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 small size and polar (S) to large size and basic (R) 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

Polymorphism: help The poly-Gln region of AR is highly polymorphic and the number of Gln varies in the population (from 17 to 26). A smaller size of the poly-Gln region may be associated with the development of prostate cancer. Long poly-Gln alleles (>23) may be associated with higher testosterone levels and severe clinical outcome in COVID-19 disease (PubMed:33647767).The poly-Gly region of AR is polymorphic and ranges from 24 to 31 Gly. A poly-Gly region shorter or equal to 23 may be associated with the development of androgenetic alopecia. - Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 207 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 EASTMQLLQQQQQEAVSEGS S SGRAREASGAPTSSKDNYLG 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                         EASTMQLL------------------QQQQQEAVSEGSSSGRAREASGAPTSSKDNYLG

                              EAGTMQLLQQQRQQQQQQQQQQQQQQQQQQQEVVSEGSSSG

Rhesus macaque                EASTMQLL------------------QQQQQEAVSEGSSSG

Chimpanzee                    EASTMQLL------------------QQQQQEAVSEGSSSG

Mouse                         EAGTMQLLQ---QQQQQQQHQQQHQQHQQQQEVISEGSSA-

Rat                           EAGTMQLLQQQ-QQQQQQQQQQQQQQQQQQQEVISEGSSSV

Pig                           EAGTMQLL-------------QQQQQQQQQQEAVSEGNSSG

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
Region 1 – 587 Interaction with ZNF318
Region 1 – 559 Modulating
Region 195 – 228 Disordered
Modified residue 225 – 225 Phosphotyrosine; by CSK
Alternative sequence 1 – 532 Missing. In isoform 2.
Mutagenesis 225 – 225 Y -> F. Decrease of CSK-induced phosphorylation.



Literature citations
Sequence variation in the androgen receptor gene is not a common determinant of male sexual orientation.
Macke J.P.; Hu N.; Hu S.; Bailey M.; King V.L.; Brown T.; Hamer D.; Nathans J.;
Am. J. Hum. Genet. 53:844-852(1993)
Cited for: VARIANTS ARG-207 AND ASP-794;
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.