Sequence information
Variant position: 728 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:
LGERQLVHVVKWAKALPGFR
N LHVDDQMAVIQYSWMGLMVF
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 LGERQLVHVVKWAKALPGFRN LHVDDQMAVIQYSWMGLMVF
LGERQLVHVVKWAKALPGFRN LHVDDQMAVIQYSWMGLMVF
Rhesus macaque LGERQLVHVVKWAKALPGFRN LHVDDQMAVIQYSWMGLMVF
Chimpanzee LGERQLVHVVKWAKALPGFRN LHVDDQMAVIQYSWMGLMVF
Mouse LGERQLVHVVKWAKALPGFRN LHVDDQMAVIQYSWMGLMVF
Rat LGERQLVHVVKWAKALPGFRN LHVDDQMAVIQYSWMGLMVF
Pig LGERQLVHVVKWAKALPGFRN LHVDDQMAVIQYSWMGLMVF
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
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
Site
721 – 721
Interaction with coactivator LXXL and FXXFY motifs
Alternative sequence
645 – 920
Missing. In isoform 3.
Alternative sequence
649 – 920
Missing. In isoform 4.
Mutagenesis
721 – 721
K -> A. Loss of transcription activation in the presence of androgen and of interaction with NCOA2.
Mutagenesis
742 – 742
W -> L. Strongly decreased transcription activation in the presence of androgen.
Helix
726 – 728
Literature citations
Pregnancy after hormonal correction of severe spermatogenic defect due to mutation in androgen receptor gene.
Yong E.L.; Ng S.C.; Roy A.C.; Yun G.; Ratnam S.S.;
Lancet 344:826-827(1994)
Cited for: VARIANT AIS LYS-728;
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.