Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10275: Variant p.Pro893Leu

Androgen receptor
Gene: AR
Feedback?
Variant information Variant position: help 893
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Leucine (L) at position 893 (P893L, p.Pro893Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In AIS.


Sequence information Variant position: help 893
Protein sequence length: help 920
Location on the sequence: help ELHQFTFDLLIKSHMVSVDF P EMMAEIISVQVPKILSGKVK
Residue conservation: help 
Human                         ELHQFTFDLLIKSHMVSVDFPEMMAEIISVQVPKILSGKVK

                              ELHQFTFDLLIKSHMVSVDFPEMMAEIISVQVPKILSGKVK

Rhesus macaque                ELHQFTFDLLIKSHMVSVDFPEMMAEIISVQVPKILSGKVK

Chimpanzee                    ELHQFTFDLLIKSHMVSVDFPEMMAEIISVQVPKILSGKVK

Mouse                         ELHQFTFDLLIKSHMVSVDFPEMMAEIISVQVPKILSGKVK

Rat                           ELHQFTFDLLIKSHMVSVDFPEMMAEIISVQVPKILSGKVK

Pig                           ELHQFTFDLLIKSHMVSVDFPEMMAEIISVQVPKILSGKVK
Sequence annotation in neighborhood: help
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 878 – 878
Site 898 – 898 Interaction with coactivator FXXLF and FXXFY motifs
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.



Literature citations
Single amino acid substitution in the hormone-binding domain of the androgen receptor in a family with complete androgen insensitivity syndrome (CAIS).
Knoke I.; Jakubiczka S.; Rohrer T.; Hanimann B.; Werder E.A.; Wieacker P.;
Cited for: VARIANT AIS LEU-893; A case of complete testicular feminization: laparoscopic orchiectomy and analysis of androgen receptor gene mutation.
Kanayama H.; Naroda T.; Inoue Y.; Kurokawa Y.; Kagawa S.;
Int. J. Urol. 6:327-330(1999)
Cited for: VARIANT AIS LEU-893; An androgen receptor mutation in the direct vicinity of the proposed C-terminal alpha-helix of the ligand binding domain containing the AF-2 transcriptional activating function core is associated with complete androgen insensitivity.
Peters I.; Weidemann W.; Romalo G.; Knorr D.; Schweikert H.-U.; Spindler K.D.;
Mol. Cell. Endocrinol. 148:47-53(1999)
Cited for: VARIANT AIS LEU-893;
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.