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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P28069: Variant p.Arg271Trp

Pituitary-specific positive transcription factor 1
Gene: POU1F1
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Variant information Variant position: help 271 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Tryptophan (W) at position 271 (R271W, p.Arg271Trp). 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: help Change from large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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: help In CPHD1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 271 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 291 The length of the canonical sequence.
Location on the sequence: help LNLEKEVVRVWFCNRRQREK R VKTSLNQSLFSISKEHLECR 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LNLEKEVVRVWFCNRRQREKRVKT-----SLNQSLF-SISKEHLECR---

                              LNLEKEVVRVWFCNRRQREKRVKT-----SLNQSLF-TISK

Rhesus macaque                LNLEKEVVRVWFCNRRQREKRVKT-----SLNQSLF-SISK

Mouse                         LNLEKEVVRVWFCNRRQREKRVKT-----SLNQSLF-SISK

Rat                           LNLEKEVVRVWFCNRRQREKRVKT-----SLNQSLF-SISK

Pig                           LNLEKEVVRVWFCNRRQREKRVKT-----SLNQSLF-TISK

Bovine                        LNLEKEVVRVWFCNRRQREKRVKT-----SLNQSLF-TISK

Sheep                         LNLEKEVVRVWFCNRRQREKRVKT-----SLNQSLF-PNSK

Chicken                       LNLEKEVVRVWFCNRRQREKRVKT-----SLHQNAFSSIIK

Fission yeast                 LSNDSSAISSTFLDRDFPDFGITSLAGSLTLPDSKIIDRSK
Sequence annotation in neighborhood: help 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
DNA binding 214 – 273 Homeobox



Literature citations
A 'hot spot' in the Pit-1 gene responsible for combined pituitary hormone deficiency: clinical and molecular correlates.
Cohen L.E.; Wondisford F.E.; Salvatoni A.; Maghnie M.; Brucker-Davis F.; Weintraub B.D.; Radovick S.;
J. Clin. Endocrinol. Metab. 80:679-684(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 214-273; VARIANT CPHD1 TRP-271; INVOLVEMENT IN CPHD1; Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency.
Ohta K.; Nobukuni Y.; Mitsubuchi H.; Fujimoto S.; Matsuo N.; Inagaki H.; Endo F.; Matsuda I.;
Biochem. Biophys. Res. Commun. 189:851-855(1992)
Cited for: VARIANTS CPHD1 LEU-24; GLN-143 AND TRP-271; A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency.
Radovick S.; Nations M.; Du Y.; Berg L.A.; Weintraub B.D.; Wondisford F.E.;
Science 257:1115-1118(1992)
Cited for: VARIANT CPHD1 TRP-271; Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.
Turton J.P.G.; Reynaud R.; Mehta A.; Torpiano J.; Saveanu A.; Woods K.S.; Tiulpakov A.; Zdravkovic V.; Hamilton J.; Attard-Montalto S.; Parascandalo R.; Vella C.; Clayton P.E.; Shalet S.; Barton J.; Brue T.; Dattani M.T.;
J. Clin. Endocrinol. Metab. 90:4762-4770(2005)
Cited for: VARIANTS CPHD1 GLN-172; LYS-230 AND TRP-271; CHARACTERIZATION OF VARIANTS CPHD1 GLN-172 AND LYS-230;
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.