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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10275: Variant p.Asp696Val

Androgen receptor
Gene: AR
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Variant information Variant position: help 696 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 Aspartate (D) to Valine (V) at position 696 (D696V, p.Asp696Val). 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 medium size and acidic (D) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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.


Sequence information Variant position: help 696 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 NVLEAIEPGVVCAGHDNNQP D SFAALLSSLNELGERQLVHV 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                         NVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHV

                              NVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHV

Rhesus macaque                NVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHV

Chimpanzee                    NVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHV

Mouse                         NVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHV

Rat                           NVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHV

Pig                           NVLEAIEPGVVCAGHDNNQPDSFAALLSSLNELGERQLVHV
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
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.



Literature citations
A new missense substitution at a mutational hot spot of the androgen receptor in siblings with complete androgen insensitivity syndrome.
Doerk T.; Schnieders F.; Jakubiczka S.; Wieacker P.; Schroeder-Kurth T.; Schmidtke J.;
Hum. Mutat. 11:337-339(1998)
Cited for: VARIANT AIS VAL-696;
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.