UniProtKB/Swiss-Prot Q8NFG4: Variant p.Ser108Ile

Folliculin
Gene: FLCN
Chromosomal location: 17p11.2
Variant information

Variant position:  108
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 Serine (S) to Isoleucine (I) at position 108 (S108I, p.Ser108Ile).
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 small size and polar (S) to medium size and hydrophobic (I)
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:  Birt-Hogg-Dube syndrome (BHD) [MIM:135150]: A rare autosomal dominant genodermatosis characterized by hair follicle hamartomas (fibrofolliculomas), kidney tumors, and spontaneous pneumothorax. Fibrofolliculomas are part of the triad of Birt-Hogg-Dube syndrome skin lesions that also includes trichodiscomas and acrochordons. Onset of this dermatologic condition is invariably in adulthood. Birt-Hogg-Dube syndrome is associated with a variety of histologic types of renal tumors, including chromophobe renal cell carcinoma (RCC), benign renal oncocytoma, clear-cell RCC and papillary type I RCC. Multiple lipomas, angiolipomas, and parathyroid adenomas are also seen in Birt-Hogg-Dube syndrome patients. 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 BHD.
Any additional useful information about the variant.



Sequence information

Variant position:  108
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  579
The length of the canonical sequence.

Location on the sequence:   LAAGHPGYISHDKETSIKYV  S HQHPSHPQLFSIVRQACVRS
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                         LAAGHPGYISHDKETSIKYVSHQHPSHPQLFSIVRQACVRS

Mouse                         LAVGHPGYISHDKETSIKYVSHQHPNHPQLFSIVRQACVRS

Rat                           LAVGHPGYISHDKETSIKYVSHQHPNHPQLFSIVRQACVRS

Bovine                        LAAGHPGYISHDKETSIKYVSHQHPNHPQLFSIVRQACVRS

Xenopus tropicalis            LAAGHPGYISHDKETSIKYVSHQHPNHPQLFSIVRQACVRS

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 – 579 Folliculin


Literature citations

Birt-Hogg-Dube syndrome: clinical and genetic studies of 10 French families.
Kluger N.; Giraud S.; Coupier I.; Avril M.F.; Dereure O.; Guillot B.; Richard S.; Bessis D.;
Br. J. Dermatol. 162:527-537(2010)
Cited for: VARIANT BHD ILE-108;

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.