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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10275: Variant p.Pro549Ser

Androgen receptor
Gene: AR
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Variant information Variant position: help 549
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Serine (S) at position 549 (P549S, p.Pro549Ser).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to small size and polar (S)
BLOSUM score: help -1
Variant description: help In AIS.
Other resources: help


Sequence information Variant position: help 549
Protein sequence length: help 920
Location on the sequence: help DSYSGPYGDMRLETARDHVL P IDYYFPPQKTCLICGDEASG
Residue conservation: help 
Human                         DSYSGPYGDMRLETARDHVLPIDYYFPPQKTCLICGDEASG

                              ESYSGPYGDMRLETARDHVLPIDYYFPPQKTCLICGDEASG

Rhesus macaque                DSYSGPYGDMRLETARDHVLPIDYYFPPQKTCLICGDEASG

Chimpanzee                    DSYSGPYGDMRLETARDHVLPIDYYFPPQKTCLICGDEASG

Mouse                         ENYSGPYGDMRLDSTRDHVLPIDYYFPPQKTCLICGDEASG

Rat                           ENYSGPYGDMRLDSTRDHVLPIDYYFPPQKTCLICGDEASG

Pig                           ESYSGPYGDMRLEPTRDHVLPIDYYFPPQKTCLICGDEASG
Sequence annotation in neighborhood: help
TypePositionsDescription
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.