UniProtKB/Swiss-Prot P16471: Variant p.Ile170Leu

Prolactin receptor
Gene: PRLR
Chromosomal location: 5p13-p14
Variant information

Variant position:  170
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 Isoleucine (I) to Leucine (L) at position 170 (I170L, p.Ile170Leu).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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:  Multiple fibroadenomas of the breast (MFAB) [MIM:615554]: A benign breast disease marked by lobuloalveolar growth with abnormally high proliferation of the epithelium, and characterized by the presence of more than 3 fibroadenomas in one breast. Fibroadenomas are adenomas containing fibrous tissue. {ECO:0000269|PubMed:18779591}. 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 MFAB; confers constitutive activity.
Any additional useful information about the variant.

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

Sequence information

Variant position:  170
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  622
The length of the canonical sequence.

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.

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.

Chain 25 – 622 Prolactin receptor
Topological domain 25 – 234 Extracellular
Domain 129 – 229 Fibronectin type-III 2
Beta strand 166 – 173

Literature citations

Identification of a gain-of-function mutation of the prolactin receptor in women with benign breast tumors.
Bogorad R.L.; Courtillot C.; Mestayer C.; Bernichtein S.; Harutyunyan L.; Jomain J.B.; Bachelot A.; Kuttenn F.; Kelly P.A.; Goffin V.; Touraine P.; Bachelot A.; Belaroussi B.; Bensimhon J.; Berdah J.; Blin M.J.; Boudinet A.; Brethon B.; Bricaire C.; Caby J.; Caillaud G.; Carel J.C.; Chabbert-Buffet N.; Charitanski H.; Chretien C.; Clough K.; Courtillot C.; Delattre G.; Denys I.; Desthieux-Ngo K.; Detoeuf M.; Dhainault C.; Duflos C.; Fiori O.; Genestie C.; Gibaud G.; Gompel A.; Gracia C.; Grimard A.; Hofman C.; Hofman H.; Kuttenn F.; Laki F.; Lanty C.; Lefranc J.P.; Le Frere-Belda M.A.; Leger D.; Martinez F.; May A.; Meng L.; Nos C.; Pelletier D.; Perrin A.; Plu-Bureau G.; Raccah-Tebbeca B.; Saiovici J.C.; Salmon R.; Sibout M.; Sigal-Zafrani B.; Thalabard J.C.; Thibaud E.; Thoury A.; Touraine P.; Triana-Rabi K.B.; Uzan S.; Viriot J.; Yacoub S.;
Proc. Natl. Acad. Sci. U.S.A. 105:14533-14538(2008)

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.