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UniProtKB/Swiss-Prot P06401: Variant p.Ala120Val

Progesterone receptor
Gene: PGR
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.



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.

TypePositionsDescription
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;

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.