Variant position: 704 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:
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 GVVCAGHDNNQPDSFAALLS SLNELGERQLVHVVKWAKALP
Rhesus macaque GVVCAGHDNNQPDSFAALLS SLNELGERQLVHVVKWAKALP
Chimpanzee GVVCAGHDNNQPDSFAALLS SLNELGERQLVHVVKWAKALP
Mouse GVVCAGHDNNQPDSFAALLS SLNELGERQLVHVVKWAKALP
Rat GVVCAGHDNNQPDSFAALLS SLNELGERQLVHVVKWAKALP
Pig GVVCAGHDNNQPDSFAALLS SLNELGERQLVHVVKWAKALP
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.
Type Positions Description
1 – 920 Androgen receptor
669 – 900 NR LBD
552 – 919 Interaction with LPXN
592 – 919 Interaction with CCAR1
625 – 919 Interaction with KAT7
706 – 706 17beta-hydroxy-5alpha-androstan-3-one
721 – 721 Interaction with coactivator LXXL and FXXFY motifs
645 – 920 Missing. In isoform 3.
649 – 920 Missing. In isoform 4.
702 – 702 L -> A. Alters receptor specificity, so that transcription is activated by the antiandrogen cyproterone acetate.
721 – 721 K -> A. Loss of transcription activation in the presence of androgen and of interaction with NCOA2.
698 – 721
Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome.
Radmayr C.; Culig Z.; Glatzl J.; Neuschmid-Kaspar F.; Bartsch G.; Klocker H.;
J. Urol. 158:1553-1556(1997)
Cited for: VARIANT PAIS GLY-704; VARIANT AIS LEU-917;
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.