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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10275: Variant p.Val912Leu

Androgen receptor
Gene: AR
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Variant information Variant position: help 912 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 Valine (V) to Leucine (L) at position 912 (V912L, p.Val912Leu). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 PAIS. Any additional useful information about the variant.


Sequence information Variant position: help 912 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 FPEMMAEIISVQVPKILSGK V KPIYFHTQ 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                         FPEMMAEIISVQVPKILSGKVKPIYFHTQ

                              FPEMMAEIISVQVPKILSGKVKPIYFHTQ

Rhesus macaque                FPEMMAEIISVQVPKILSGKVKPIYFHTQ

Chimpanzee                    FPEMMAEIISVQVPKILSGKVKPIYFHTQ

Mouse                         FPEMMAEIISVQVPKILSGKVKPIYFHTQ

Rat                           FPEMMAEIISVQVPKILSGKVKPIYFHTQ

Pig                           FPEMMAEIISVQVPKILSGKVKPIYFHTQ
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 552 – 919 Interaction with LPXN
Region 592 – 919 Interaction with CCAR1
Region 625 – 919 Interaction with KAT7
Site 898 – 898 Interaction with coactivator FXXLF and FXXFY motifs
Modified residue 916 – 916 Phosphotyrosine; by CSK
Alternative sequence 645 – 920 Missing. In isoform 3.
Alternative sequence 649 – 920 Missing. In isoform 4.
Mutagenesis 898 – 898 E -> AQ. Reduced transcription activation in the presence of androgen.
Mutagenesis 898 – 898 E -> KR. Loss of transcription activation in the presence of androgen.
Mutagenesis 916 – 916 Y -> F. Decrease in CSK-induced phosphorylation.
Beta strand 911 – 914



Literature citations
A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia.
Knoke I.; Jakubiczka S.; Lehnert H.; Wieacker P.;
Andrologia 31:199-201(1999)
Cited for: VARIANT PAIS LEU-912;
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.