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UniProtKB/Swiss-Prot P28069: Variant p.Ser179Arg

Pituitary-specific positive transcription factor 1
Gene: POU1F1
Variant information

Variant position:  179
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Arginine (R) at position 179 (S179R, p.Ser179Arg).
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 large size and basic (R)
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

Variant description:  In CPHD1; transactivation capacity of this mutant is markedly decreased on the GH1; PRL, TSHB and POU1F1 genes; abolishes the functional interaction of POU1F1 on the PRL promoter with the coactivator CREBBP but not with the transcription factor LHX3; displays normal nuclear accumulation but a markedly decreased binding to a DNA response element.
Any additional useful information about the variant.

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



Sequence information

Variant position:  179
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  291
The length of the canonical sequence.

Location on the sequence:   AVHGSEFSQTTICRFENLQL  S FKNACKLKAILSKWLEEAEQ
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                         AVHGSEFSQTTICRFENLQLSF--------------KNACKLKAILSKWLEEAEQ

                              AVHGSEFSQTTICRFENLQLSF--------------KNACK

Rhesus macaque                AVHGSEFSQTTICRFENLQLSF--------------KNACK

Mouse                         AVHGSEFSQTTICRFENLQLSF--------------KNACK

Rat                           AVHGSEFSQTTICRFENLQLSF--------------KNACK

Pig                           AVHGSEFSQTTICRFENLQLSF--------------KNACK

Bovine                        AVHGSEFSQTTICRFENLQLSF--------------KNACK

Sheep                         AVHGSEFSQTTICRFENLQLSF--------------KNACK

Chicken                       AVHGSEFSQTTICRFENLQLSF--------------KNACK

Fission yeast                 TEEESRINPSTSKFLKQLNKGFNGFTKPFRKSRKQSKNRKN

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 – 291 Pituitary-specific positive transcription factor 1
Domain 124 – 198 POU-specific


Literature citations

Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.
Miyata I.; Vallette-Kasic S.; Saveanu A.; Takeuchi M.; Yoshikawa H.; Tajima A.; Tojo K.; Reynaud R.; Gueydan M.; Enjalbert A.; Tajima N.; Eto Y.; Brue T.;
J. Clin. Endocrinol. Metab. 91:4981-4987(2006)
Cited for: VARIANT CPHD1 ARG-179; CHARACTERIZATION OF VARIANT CPHD1 ARG-179;

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.