UniProtKB/SwissProt variant VAR

Variant information

Variant position:

120

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 Alanine (A) to Valine (V) at position 120 (A120V, p.Ala120Val).

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 small size and hydrophobic (A) to medium size and hydrophobic (V)

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

BLOSUM score:

0

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 rs11571144 [ dbSNP | Ensembl ]

Sequence information

Variant position:

120

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:

SSSPPEKDSGLLDSVLDTLL A PSGPGQSQPSPPACEVTSSW

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                         SSSP--PEKDSGLLDSVLDTLLAPSGPGQSQPSPPACEVTSSW

Gorilla                       SSSP--PEKDSGLLDSVLETLLAPSGPGQSQPSPPACEVTS

                              SPGP--PRQDRGPLHGAPSTALRPAGPGQGRSSP-AWEPRS

Chimpanzee                    SSSP--PEKDSGLLDSVLDTLLAPSGPGQSQPSPPACEVTS

Mouse                         NSRA--PEKDSRLLDSVLDSLLTPSGTEQSHASPPACEAIT

Rat                           NPRA--PEKDSRLLDSVLDTLLAPSGPEQSQTSPPACEAIT

Rabbit                        SSRP--PEKDSGLLDSVLDTLLAPSGPGQSHASPATCEAIS

Chicken                       SYRPGGGSLSKDCLDSVLDTFLAPA----AHAAP-------

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	1 – 164	AF3; mediates transcriptional activation (in isoform B)
Region	1 – 157	Disordered
Compositional bias	120 – 135	Polar residues
Modified residue	102 – 102	Phosphoserine
Modified residue	130 – 130	Phosphoserine
Alternative sequence	1 – 594	Missing. In isoform 3.
Alternative sequence	1 – 164	Missing. In isoform A.
Alternative sequence	17 – 635	Missing. In isoform 4.
Mutagenesis	115 – 115	L -> A. Reduces transcriptional activation; when associated with A-118 and A-119.
Mutagenesis	118 – 118	L -> A. Reduces transcriptional activation; when associated with A-115 and A-119.
Mutagenesis	119 – 119	L -> A. Reduces transcriptional activation; when associated with A-115 and A-118.
Mutagenesis	140 – 140	W -> AFR. Reduces transcriptional activation.

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.Ala120Val