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UniProtKB/Swiss-Prot P10275: Variant p.Phe765Leu

Androgen receptor
Gene: AR
Variant information

Variant position:  765
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Phenylalanine (F) to Leucine (L) at position 765 (F765L, p.Phe765Leu).
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:  Change from large size and aromatic (F) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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:  In AIS.
Any additional useful information about the variant.



Sequence information

Variant position:  765
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  920
The length of the canonical sequence.

Location on the sequence:   LMVFAMGWRSFTNVNSRMLY  F APDLVFNEYRMHKSRMYSQC
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         LMVFAMGWRSFTNVNSRMLYFAPDLVFNEYRMHKSRMYSQC

                              LMVFAMGWRSFTNVNSRMLYFAPDLVFNEYRMHKSRMYSQC

Rhesus macaque                LMVFAMGWRSFTNVNSRMLYFAPDLVFNEYRMHKSRMYSQC

Chimpanzee                    LMVFAMGWRSFTNVNSRMLYFAPDLVFNEYRMHKSRMYSQC

Mouse                         LMVFAMGWRSFTNVNSRMLYFAPDLVFNEYRMHKSRMYSQC

Rat                           LMVFAMGWRSFTNVNSRMLYFAPDLVFNEYRMHKSRMYSQC

Pig                           LMVFAMGWRSFTNVNSRMLYFAPDLVFNEYRMHKSRMYSQC

Sequence annotation in neighborhood:  
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 17beta-hydroxy-5alpha-androstan-3-one
Alternative sequence 645 – 920 Missing. In isoform 3.
Alternative sequence 649 – 920 Missing. In isoform 4.
Beta strand 761 – 766


Literature citations

A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with X-linked androgen insensitivity.
Ris-Stalpers C.; Hoogenboezem T.; Sleddens H.F.B.M.; Verleun-Mooijman M.C.T.; Degenhart H.J.; Drop S.L.S.; Halley D.J.J.; Oosterwijk J.C.; Hodgins M.B.; Trapman J.; Brinkmann A.O.;
Pediatr. Res. 36:227-234(1994)
Cited for: VARIANTS AIS HIS-616 AND LEU-765; VARIANTS PAIS VAL-743 AND THR-746;

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.