Sequence information
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:
KELCKAVSVSMGLGVEALEH
L SPGEQLRGDCMYAPLLGVPP
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 KELCKAVSVSMGLGVEALEHL SPGEQLRGDCMYAPLLGVPP
KELCKAVSVSMGLGVEALEHL SPGEQLRGDCMYAPLLGGPP
Rhesus macaque KELCKAVSVSMGLGVEALEHL SPGEQLRGDCMYAPVLGVPP
Chimpanzee KELCKAVSVSMGLGVEALEHL SPGEQLRGDCMYAPLLGVPP
Mouse KELCKAVSVSMGLGVEALEHL SPGEQLRGDCMYASLLGGPP
Rat KELCKAVSVSMGLGVEALEHL SPGEQLRGDCMYASLLGGPP
Pig KELCKAVSVSMGLGVEALEHL SPGEQLRGDCMYAPLLTGPP
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
Region
1 – 587
Interaction with ZNF318
Region
1 – 559
Modulating
Modified residue
258 – 258
Phosphoserine
Modified residue
269 – 269
Phosphotyrosine; by CSK and TNK2
Alternative sequence
1 – 532
Missing. In isoform 2.
Mutagenesis
269 – 269
Y -> F. Decrease of CSK-induced phosphorylation and phosphorylation by TNK2. Complete loss of TNK2-dependent phosphorylation; when associated with F-365.
Literature citations
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;
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.