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:
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 DSYSGPYGDMRLETARDHVL PIDYYFPPQKTCLICGDEASG
Rhesus macaque DSYSGPYGDMRLETARDHVL PIDYYFPPQKTCLICGDEASG
Chimpanzee DSYSGPYGDMRLETARDHVL PIDYYFPPQKTCLICGDEASG
Mouse ENYSGPYGDMRLDSTRDHVL PIDYYFPPQKTCLICGDEASG
Rat ENYSGPYGDMRLDSTRDHVL PIDYYFPPQKTCLICGDEASG
Pig ESYSGPYGDMRLEPTRDHVL PIDYYFPPQKTCLICGDEASG
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
535 – 535 Phosphotyrosine; by CSK
552 – 552 Phosphotyrosine; by CSK
535 – 535 Y -> F. Greatest decrease of CSK-induced phosphorylation and inhibition of transcriptional activity induced by EGF.
552 – 552 Y -> F. Decrease in CSK-induced phosphorylation.
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;
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.