Variant position: 257 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 KELCKAVSVSMGLGVEALEH LSPGEQLRGDCMYAPLLGVPP
Rhesus macaque KELCKAVSVSMGLGVEALEH LSPGEQLRGDCMYAPVLGVPP
Chimpanzee KELCKAVSVSMGLGVEALEH LSPGEQLRGDCMYAPLLGVPP
Mouse KELCKAVSVSMGLGVEALEH LSPGEQLRGDCMYASLLGGPP
Rat KELCKAVSVSMGLGVEALEH LSPGEQLRGDCMYASLLGGPP
Pig KELCKAVSVSMGLGVEALEH LSPGEQLRGDCMYAPLLTGPP
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
1 – 587 Interaction with ZNF318
1 – 559 Modulating
258 – 258 Phosphoserine
269 – 269 Phosphotyrosine; by CSK and TNK2
1 – 532 Missing. In isoform 2.
269 – 269 Y -> F. Decrease of CSK-induced phosphorylation and phosphorylation by TNK2. Complete loss of TNK2-dependent phosphorylation; when associated with F-365.
One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome.
Tanaka H.; Komori S.; Sakata K.; Shima H.; Koyama K.;
Gynecol. Endocrinol. 12:75-82(1998)
Cited for: VARIANTS AIS PRO-257 AND ALA-821;
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.