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UniProtKB/Swiss-Prot P06401: Variant p.Cys347Ser

Progesterone receptor
Gene: PGR
Variant information

Variant position:  347
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 Cysteine (C) to Serine (S) at position 347 (C347S, p.Cys347Ser).
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 (C) 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

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  347
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:   ESYDGGAGAASAFAPPRSSP  C ASSTPVAVGDFPDCAYPPDA
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                         ES-YDGGAGAASAFAPPRSSPCASSTPVAVGDFPDCAYPPDA

Gorilla                       ES-YDGGAGAASAFAPPRSSPSASSTPVAVGDFPDCAYPPD

                              ET-YDAGA-----FAPPRGSPSAPCAPLAAGDFPDCAYPSD

Chimpanzee                    ES-YDGGAGAXSAFAPPRSSPSASSTPVAVGDFPDCAYPPD

Mouse                         DS-YDGGATAQGPFAPPRGSPSAPSPPVPCGDFPDCTYPLE

Rat                           DS-YDGGAAAQVPFAPPRGSPSAPSPPVPCGDFPDCTYPPE

Rabbit                        ES-YDGGAAAASPFVPQRGSPSASSTPVAGGDFPDCTYPPD

Chicken                       EAAYDGSA-----FGP-RSSPS-----VPAADLAEYGYPP-

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 331 – 351 Disordered
Modified residue 345 – 345 Phosphoserine; by MAPK
Alternative sequence 1 – 594 Missing. In isoform 3.
Alternative sequence 17 – 635 Missing. In isoform 4.
Mutagenesis 344 – 344 S -> A. No interaction with SP1. No change in progestin-induced protein degradation; when associated with A-345. No change in sumoylation; when associated with A-294 and A-345.
Mutagenesis 345 – 345 S -> A. No change in progestin-induced protein degradation; when associated with A-344. No change in sumoylation; when associated with A-294 and A-344.


Literature citations

No reference for the current variant in UniProtKB/Swiss-Prot.

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.