Sequence information
Variant position: 753 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:
DQMAVIQYSWMGLMVFAMGW
R SFTNVNSRMLYFAPDLVFNE
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 DQMAVIQYSWMGLMVFAMGWR SFTNVNSRMLYFAPDLVFNE
DQMAVIQYSWMGLMVFAMGWR SFTNVNSRMLYFAPDLVFNE
Rhesus macaque DQMAVIQYSWMGLMVFAMGWR SFTNVNSRMLYFAPDLVFNE
Chimpanzee DQMAVIQYSWMGLMVFAMGWR SFTNVNSRMLYFAPDLVFNE
Mouse DQMAVIQYSWMGLMVFAMGWR SFTNVNSRMLYFAPDLVFNE
Rat DQMAVIQYSWMGLMVFAMGWR SFTNVNSRMLYFAPDLVFNE
Pig DQMAVIQYSWMGLMVFAMGWR SFTNVNSRMLYFAPDLVFNE
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.
Helix
731 – 758
Literature citations
Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity.
Komori S.; Kasumi H.; Sakata K.; Tanaka H.; Hamada K.; Koyama K.;
Arch. Gynecol. Obstet. 261:95-100(1998)
Cited for: VARIANTS AIS CYS-572; GLN-753 AND CYS-775;
Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism.
Cabral D.F.; Maciel-Guerra A.T.; Hackel C.;
Braz. J. Med. Biol. Res. 31:775-778(1998)
Cited for: VARIANTS AIS HIS-616 AND GLN-753;
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.