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:
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 ICGDEASGCHYGALTCGSCK VFFKRAAEGKQKYLCASRNDC
Rhesus macaque ICGDEASGCHYGALTCGSCK VFFKRAAEGKQKYLCASRNDC
Chimpanzee ICGDEASGCHYGALTCGSCK VFFKRAAEGKQKYLCASRNDC
Mouse ICGDEASGCHYGALTCGSCK VFFKRAAEGKQKYLCASRNDC
Rat ICGDEASGCHYGALTCGSCK VFFKRAAEGKQKYLCASRNDC
Pig ICGDEASGCHYGALTCGSCK VFFKRAAEGKQKYLCASRNDC
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
560 – 632 Nuclear receptor
1 – 587 Interaction with ZNF318
552 – 919 Interaction with LPXN
572 – 662 Interaction with HIPK3
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;
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.