Sequence information
Variant position: 759 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:
QYSWMGLMVFAMGWRSFTNV
N SRMLYFAPDLVFNEYRMHKS
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 QYSWMGLMVFAMGWRSFTNVN SRMLYFAPDLVFNEYRMHKS
QYSWMGLMVFAMGWRSFTNVN SRMLYFAPDLVFNEYRMHKS
Rhesus macaque QYSWMGLMVFAMGWRSFTNVN SRMLYFAPDLVFNEYRMHKS
Chimpanzee QYSWMGLMVFAMGWRSFTNVN SRMLYFAPDLVFNEYRMHKS
Mouse QYSWMGLMVFAMGWRSFTNVN SRMLYFAPDLVFNEYRMHKS
Rat QYSWMGLMVFAMGWRSFTNVN SRMLYFAPDLVFNEYRMHKS
Pig QYSWMGLMVFAMGWRSFTNVN SRMLYFAPDLVFNEYRMHKS
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
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.
Mutagenesis
742 – 742
W -> L. Strongly decreased transcription activation in the presence of androgen.
Literature citations
Partial androgen insensitivity and correlations with the predicted three dimensional structure of the androgen receptor ligand-binding domain.
Yong E.L.; Tut T.G.; Ghadessy F.J.; Prins G.; Ratnam S.S.;
Mol. Cell. Endocrinol. 137:41-50(1998)
Cited for: VARIANT PAIS THR-759;
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.