UniProtKB/SwissProt variant VAR

Variant information

Variant position:

344

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 Serine (S) to Threonine (T) at position 344 (S344T, p.Ser344Thr).

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 polar (S) to medium size and polar (T)

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 rs3740753 [ dbSNP | Ensembl ]

Sequence information

Variant position:

344

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:

LEDESYDGGAGAASAFAPPR S SPCASSTPVAVGDFPDCAYP

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                         LEDES-YDGGAGAASAFAPPRSSPCASSTPVAVGDFPDCAYP

Gorilla                       LEDES-YDGGAGAASAFAPPRSSPSASSTPVAVGDFPDCAY

                              LEAET-YDAGA-----FAPPRGSPSAPCAPLAAGDFPDCAY

Chimpanzee                    LEDES-YDGGAGAXSAFAPPRSSPSASSTPVAVGDFPDCAY

Mouse                         LEGDS-YDGGATAQGPFAPPRGSPSAPSPPVPCGDFPDCTY

Rat                           LEGDS-YDGGAAAQVPFAPPRGSPSAPSPPVPCGDFPDCTY

Rabbit                        LEGES-YDGGAAAASPFVPQRGSPSASSTPVAGGDFPDCTY

Chicken                       LDVEAAYDGSA-----FGP-RSSPS-----VPAADLAEYGY

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	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

Two distinct estrogen-regulated promoters generate transcripts encoding the two functionally different human progesterone receptor forms A and B.
Kastner P.; Krust A.; Turcotte B.; Stropp U.; Tora L.; Gronemeyer H.; Chambon P.;
EMBO J. 9:1603-1614(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; ALTERNATIVE PROMOTER USAGE; VARIANT THR-344;

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.Ser344Thr