Sequence information
Variant position: 549 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:
DSYSGPYGDMRLETARDHVL
P IDYYFPPQKTCLICGDEASG
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 DSYSGPYGDMRLETARDHVLP IDYYFPPQKTCLICGDEASG
ESYSGPYGDMRLETARDHVLP IDYYFPPQKTCLICGDEASG
Rhesus macaque DSYSGPYGDMRLETARDHVLP IDYYFPPQKTCLICGDEASG
Chimpanzee DSYSGPYGDMRLETARDHVLP IDYYFPPQKTCLICGDEASG
Mouse ENYSGPYGDMRLDSTRDHVLP IDYYFPPQKTCLICGDEASG
Rat ENYSGPYGDMRLDSTRDHVLP IDYYFPPQKTCLICGDEASG
Pig ESYSGPYGDMRLEPTRDHVLP IDYYFPPQKTCLICGDEASG
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
535 – 535
Phosphotyrosine; by CSK
Modified residue
552 – 552
Phosphotyrosine; by CSK
Mutagenesis
535 – 535
Y -> F. Greatest decrease of CSK-induced phosphorylation and inhibition of transcriptional activity induced by EGF.
Mutagenesis
552 – 552
Y -> F. Decrease in CSK-induced phosphorylation.
Literature citations
Androgen receptor gene mutations are rarely associated with isolated penile hypospadias.
Sutherland R.W.; Wiener J.S.; Hicks J.P.; Marcelli M.; Gonzales E.T. Jr.; Roth D.R.; Lamb D.J.;
J. Urol. 156:828-831(1996)
Cited for: VARIANT AIS SER-549;
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.