UniProtKB/Swiss-Prot P28069: Variant p.Glu230Lys

Pituitary-specific positive transcription factor 1
Gene: POU1F1
Chromosomal location: 3p11
Variant information

Variant position:  230
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Glutamate (E) to Lysine (K) at position 230 (E230K, p.Glu230Lys).
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 acidic (E) to large size and basic (K)
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; associated with less severe impairment of transactivation; has a similar DNA-binding affinity as the wild-type protein.
Any additional useful information about the variant.



Sequence information

Variant position:  230
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:   ANERKRKRRTTISIAAKDAL  E RHFGEQNKPSSQEIMRMAEE
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                         ANERKRKRRTTISIAAK--------------DALERHFGEQNK--------PSSQEIMR----------MAEE

Rhesus macaque                ANERKRKRRTTISIAAK--------------DALERHFGEQ

Mouse                         ANERKRKRRTTISVAAK--------------DALERHFGEH

Rat                           ANERKRKRRTTISIAAK--------------DALERHFGEH

Pig                           ANERKRKRRTTISIAAK--------------DALERHFGEQ

Bovine                        ANERKRKRRTTISIAAK--------------DALERHFGEQ

Sheep                         ANERKRKRRTTISIAAK--------------DALERHFGEQ

Dog                           ANERKRKRRTTISIAAK--------------DALERHFGEQ

Chicken                       VNERKRKRRTTISISAK--------------EALERHFGEQ

Fission yeast                 SHEDKRENQSVNSESSKYSPRSSNHSPTLHSKDLHRDMATV

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
DNA binding 214 – 273 Homeobox


Literature citations

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.