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UniProtKB/Swiss-Prot O75360: Variant p.Arg99Gln

Homeobox protein prophet of Pit-1
Gene: PROP1
Variant information

Variant position:  99
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 Arginine (R) to Glutamine (Q) at position 99 (R99Q, p.Arg99Gln).
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 medium size and polar (Q)
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

Involvement in disease:  Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600]: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD2 is characterized by pleiotropic deficiencies of growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, prolactin and adrenocorticotropic hormone. {ECO:0000269|PubMed:10946881, ECO:0000269|PubMed:11549703, ECO:0000269|PubMed:12519826, ECO:0000269|PubMed:15531542, ECO:0000269|PubMed:19128366, ECO:0000269|PubMed:9462743, ECO:0000269|PubMed:9768691}. 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 CPHD2; displays a significant decrease in DNA binding on a paired-box response element (PRDQ9) and trans-activation of a luciferase reporter gene.
Any additional useful information about the variant.

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



Sequence information

Variant position:  99
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  226
The length of the canonical sequence.

Location on the sequence:   VQLEQLESAFGRNQYPDIWA  R ESLARDTGLSEARIQVWFQN
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                         VQLEQLESAFGRNQYPDIWARESLARDTGLSEARIQVWFQN

Gorilla                       VQLEQLESAFGRNQYPDIWARESLARDTGLSEARIQVWFQN

                              GQLEQLETAFGRNQYPDIWAREGLARDTGLSEARIQVWFQN

Mouse                         AQLEQLESAFGRNQYPDIWAREGLAQDTGLSEARIQVWFQN

Pig                           AQLEQLESAFGRNQYPDIWAREGLARDTGLSEARIQVWFQN

Bovine                        AQLEQLESAFGRNQYPDIWARESLAQDTGLSEARIQVWFQN

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 – 226 Homeobox protein prophet of Pit-1
DNA binding 69 – 128 Homeobox


Literature citations

Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay.
Vieira T.C.; Dias da Silva M.R.; Cerutti J.M.; Brunner E.; Borges M.; Arnaldi L.T.; Kopp P.; Abucham J.;
J. Clin. Endocrinol. Metab. 88:38-44(2003)
Cited for: VARIANT CPHD2 GLN-99;

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.