Sequence information
Variant position: 582 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:
ICGDEASGCHYGALTCGSCK
V FFKRAAEGKQKYLCASRNDC
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 ICGDEASGCHYGALTCGSCKV FFKRAAEGKQKYLCASRNDC
ICGDEASGCHYGALTCGSCKV FFKRAAEGKQKYLCASRNDC
Rhesus macaque ICGDEASGCHYGALTCGSCKV FFKRAAEGKQKYLCASRNDC
Chimpanzee ICGDEASGCHYGALTCGSCKV FFKRAAEGKQKYLCASRNDC
Mouse ICGDEASGCHYGALTCGSCKV FFKRAAEGKQKYLCASRNDC
Rat ICGDEASGCHYGALTCGSCKV FFKRAAEGKQKYLCASRNDC
Pig ICGDEASGCHYGALTCGSCKV FFKRAAEGKQKYLCASRNDC
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
DNA binding
560 – 632
Nuclear receptor
Region
1 – 587
Interaction with ZNF318
Region
552 – 919
Interaction with LPXN
Region
572 – 662
Interaction with HIPK3
Literature citations
A new mutation within the deoxyribonucleic acid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome.
Lumbroso S.; Lobaccaro J.-M.; Belon C.; Martin D.; Chaussain J.-L.; Sultan C.;
Fertil. Steril. 60:814-819(1993)
Cited for: VARIANT AIS PHE-582;
Androgen receptor (AR) gene mutations in 6 families with androgen insensitivity syndrome (Abstract #114).
Lobaccaro J.-M.; Lumbroso S.; Belon C.; Chaussain J.L.; Toublanc J.E.; Leheup B.; Sultan C.;
Cited for: VARIANTS AIS PHE-582; VAL-744; VAL-755; GLU-768 AND CYS-856;
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.