UniProtKB/SwissProt variant VAR

Variant information

Variant position:

549

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Proline (P) to Serine (S) at position 549 (P549S, p.Pro549Ser).

Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:

Change from medium size and hydrophobic (P) to small size and polar (S)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-1

The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page

Variant description:

In AIS.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs137852588 [ dbSNP | Ensembl ]

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                         DSYSGPYGDMRLETARDHVLPIDYYFPPQKTCLICGDEASG

                              ESYSGPYGDMRLETARDHVLPIDYYFPPQKTCLICGDEASG

Rhesus macaque                DSYSGPYGDMRLETARDHVLPIDYYFPPQKTCLICGDEASG

Chimpanzee                    DSYSGPYGDMRLETARDHVLPIDYYFPPQKTCLICGDEASG

Mouse                         ENYSGPYGDMRLDSTRDHVLPIDYYFPPQKTCLICGDEASG

Rat                           ENYSGPYGDMRLDSTRDHVLPIDYYFPPQKTCLICGDEASG

Pig                           ESYSGPYGDMRLEPTRDHVLPIDYYFPPQKTCLICGDEASG

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10275: Variant p.Pro549Ser