UniProtKB/SwissProt variant VAR

Variant information

Variant position:

536

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

Type of variant:

LB/B

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 Glutamine (Q) to Proline (P) at position 536 (Q536P, p.Gln536Pro).

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 polar (Q) to medium size and hydrophobic (P)

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

Other resources:

Links to websites of interest for the variant.

Variant rs11571152 [ dbSNP | Ensembl ]

Sequence information

Variant position:

536

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

Protein sequence length:

933

The length of the canonical sequence.

Location on the sequence:

GLNGLPQLGYQAAVLKEGLP Q VYPPYLNYLRPDSEASQSPQ

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                         GLNGLPQ-LGYQAAVLKEGLPQVYPPYLNYLRPDSEASQSPQ

Gorilla                       GLNGLPQ-LGYQAAVLKEGLPQVYPPYLNYLRPDSEASQSP

                              GLGALPQ-LGYQAAVLKEGLPQVYQPYLNYLRPDSDASQSP

Chimpanzee                    GLNGLPQ-LGYQAAVLKEGLPQVYPPYLNYLRPDSEASQSP

Mouse                         GLNGLPQ-LGYQAAVLKDSLPQVYPPYLNYLRPDSEASQSP

Rat                           GLNGLPQ-LGYQAAVLKDSLPQVYPPYLNYLRPDSEASQSP

Rabbit                        GLNGLPQ-LGYQAAVLKEGLPQVYTPYLNYLRPDSEASQSP

Chicken                       GLNGHHQALGFPAAVLKEGLPQLCPPYLGYVRPDTETSQSS

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 – 933	Progesterone receptor
Region	1 – 566	Modulating, Pro-Rich
Region	456 – 546	AF1; mediates transcriptional activation
Cross	531 – 531	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Alternative sequence	1 – 594	Missing. In isoform 3.
Alternative sequence	17 – 635	Missing. In isoform 4.
Mutagenesis	531 – 531	K -> R. Some loss of sumoylation; when associated with R-7. Completely abolishes sumoylation; when associated with R-7 and R-388.

Literature citations

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-50; VAL-120; LEU-186; ARG-301; THR-344; SER-444; LEU-529; PRO-536; VAL-651 AND LEU-865;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06401: Variant p.Gln536Pro