UniProtKB/Swiss-Prot Q01860: Variant p.Leu226Phe

POU domain, class 5, transcription factor 1
Gene: POU5F1
Chromosomal location: 6p21.31
Variant information

Variant position:  226
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Leucine (L) to Phenylalanine (F) at position 226 (L226F, p.Leu226Phe).
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 hydrophobic (L) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  226
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  360
The length of the canonical sequence.

Location on the sequence:   KWVEEADNNENLQEICKAET  L VQARKRKRTSIENRVRGNLE
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                         KWVEEADNNENLQEICKAE-TLVQARKRK-RTSIENRVRGNLE

Rhesus macaque                KWVEEADNNENLQEICKAE-TLVQARKRK-RTSIENRVRGS

Chimpanzee                    KWVEEADNNENLQEICKAE-TLVQARKRK-RTSIENRVRGN

Mouse                         KWVEEADNNENLQEICKSE-TLVQARKRK-RTSIENRVRWS

Pig                           KWVEEADNNENLQEICKAE-TLVQARKRK-RTSIENRVRGN

Bovine                        KWVEEADNNENLQEICKAE-TLVQARKRK-RTSIENRVRGN

Zebrafish                     RWLNEAENSENPQDMYKIERVFVDTRKRKRRTSLEGTVRSA

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 – 360 POU domain, class 5, transcription factor 1
Modified residue 235 – 235 Phosphothreonine
Modified residue 236 – 236 Phosphoserine


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.