UniProtKB/SwissProt variant VAR

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

265 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 Arginine (R) to Tryptophan (W) at position 265 (R265W, p.Arg265Trp). 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 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:

-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:

In CPHD1; reduces transactivation capacity on the PRL gene; increases instability of the protein. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs780359925 [ dbSNP | Ensembl ]

Sequence information Variant position:

265 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:

MRMAEELNLEKEVVRVWFCN R RQREKRVKTSLNQSLFSISK 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                         MR----------MAEELNLEKEVVRVWFCNRRQREKRVKT-----SLNQSLF-SISK

                              MR----------MAEELNLEKEVVRVWFCNRRQREKRVKT-

Rhesus macaque                MR----------MAEELNLEKEVVRVWFCNRRQREKRVKT-

Mouse                         MR----------MAEELNLEKEVVRVWFCNRRQREKRVKT-

Rat                           MR----------MAEELNLEKEVVRVWFCNRRQREKRVKT-

Pig                           LR----------MAEELNLEKEVVRVWFCNRRQREKRVKT-

Bovine                        LR----------MAEELNLEKEVVRVWFCNRRQREKRVKT-

Sheep                         LR----------MAEELNLEKEVVRVWFCNRRQREKRVKT-

Chicken                       MR----------MAEGLNLEKEVVRVWFCNRRQREKRVKT-

Fission yeast                 LRKTLAYTNSSGTSTVLSNDSSAISSTFLDRDFPDFGITSL

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 – 291	Pituitary-specific positive transcription factor 1
DNA binding	214 – 273	Homeobox
Helix	255 – 268

Literature citations
Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to c ombined pituitary hormone deficiency.
Turton J.P.; Strom M.; Langham S.; Dattani M.T.; Le Tissier P.;
Clin. Endocrinol. (Oxf.) 76:387-393(2012)
Cited for: VARIANT CPHD1 TRP-265; CHARACTERIZATION OF VARIANT CPHD1 TRP-265; FUNCTION;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P28069: Variant p.Arg265Trp