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:
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 DQMAVIQYSWMGLMVFAMGW RSFTNVNSRMLYFAPDLVFNE
Rhesus macaque DQMAVIQYSWMGLMVFAMGW RSFTNVNSRMLYFAPDLVFNE
Chimpanzee DQMAVIQYSWMGLMVFAMGW RSFTNVNSRMLYFAPDLVFNE
Mouse DQMAVIQYSWMGLMVFAMGW RSFTNVNSRMLYFAPDLVFNE
Rat DQMAVIQYSWMGLMVFAMGW RSFTNVNSRMLYFAPDLVFNE
Pig DQMAVIQYSWMGLMVFAMGW RSFTNVNSRMLYFAPDLVFNE
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
753 – 753 Androgen
645 – 920 Missing. In isoform 3.
649 – 920 Missing. In isoform 4.
742 – 742 W -> L. Strongly decreased transcription activation in the presence of androgen.
731 – 758
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;
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