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UniProtKB/Swiss-Prot P28069: Variant p.Phe135Cys

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

Variant position:  135
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 implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Phenylalanine (F) to Cysteine (C) at position 135 (F135C, p.Phe135Cys).
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 aromatic (F) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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

Involvement in disease:  Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD1 is characterized by pleiotropic deficiencies of growth hormone, prolactin and thyroid-stimulating hormone, while the production of adrenocorticotropic hormone, luteinizing hormone, and follicle-stimulating hormone are preserved. In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen. Some cases present with severe mental retardation along with short stature. {ECO:0000269|PubMed:11297581, ECO:0000269|PubMed:1472057, ECO:0000269|PubMed:1509262, ECO:0000269|PubMed:1509263, ECO:0000269|PubMed:15928241, ECO:0000269|PubMed:16968807, ECO:0000269|PubMed:22010633, ECO:0000269|PubMed:26612202, ECO:0000269|PubMed:7852536, ECO:0000269|PubMed:8768831, ECO:0000269|PubMed:9485179, ECO:0000269|PubMed:9626142}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In CPHD1.
Any additional useful information about the variant.

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



Sequence information

Variant position:  135
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:   SKLVEEPIDMDSPEIRELEK  F ANEFKVRRIKLGYTQTNVGE
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                         SKLVEEPIDMDSPEIRELEKFANEFKVR-----------------------------------------------------RIKLGY--TQTNVGE

                              SKLAEEPVDTESPEIRELEKFANEFKVR-------------

Rhesus macaque                SKLVEEPIDMDSPEIRELEKFANEFKVR-------------

Mouse                         SKLVEEPIDMDSPEIRELEQFANEFKVR-------------

Rat                           SKLVEEPIDMDSPEIRELEQFANEFKVR-------------

Pig                           SKLVEEPIDMDSPEIRELEKFPNEFKVR-------------

Bovine                        SKLVEEPIDMDSPEIRELEKFANEFKVR-------------

Sheep                         SKLIEEPIDMDSPEIRELEKFANEFKVR-------------

Chicken                       SKSVEEPVDMDSPEIRELEKFANEFKLR-------------

Fission yeast                 AELLANKLGISLPKMAPLD-FGDLFSPPWNLAFASMLSQLL

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

A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency.
Pellegrini-Bouiller I.; Belicar P.; Barlier A.; Gunz G.; Charvet J.P.; Jaquet P.; Brue T.; Vialettes B.; Enjalbert A.;
J. Clin. Endocrinol. Metab. 81:2790-2796(1996)
Cited for: VARIANT CPHD1 CYS-135;

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.