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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8NFG4: Variant p.Ser79Trp

Folliculin
Gene: FLCN
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Variant information Variant position: help 79 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Serine (S) to Tryptophan (W) at position 79 (S79W, p.Ser79Trp). 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: help Change from small size and polar (S) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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: help In a sporadic colorectal carcinoma; somatic mutation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 79 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 579 The length of the canonical sequence.
Location on the sequence: help RAHSPAEGASVESSSPGPKK S DMCEGCRSLAAGHPGYISHD 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         RAHSPAEGASVESSSPGPKKSDMCEGCRSLAAGHPGYISHD

Mouse                         RAHSPAEGASSESSSPGPKKSDMCEGCRSLAVGHPGYISHD

Rat                           RAHSPAEGASTDSSSPGPKKSDMCEGCRSLAVGHPGYISHD

Bovine                        RAHSPAEGASAESSSPGPKKSDMCEGCRSLAAGHPGYISHD

Xenopus tropicalis            RCHSPAEGASADSNSPRPKKSDMCEGCRSLAAGHPGYISHD

Sequence annotation in neighborhood: help 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
Region 30 – 81 Disordered
Modified residue 62 – 62 Phosphoserine
Modified residue 73 – 73 Phosphoserine



Literature citations
Alterations of the Birt-Hogg-Dube gene (BHD) in sporadic colorectal tumours.
Kahnoski K.; Khoo S.K.; Nassif N.T.; Chen J.; Lobo G.P.; Segelov E.; Teh B.T.;
J. Med. Genet. 40:511-515(2003)
Cited for: POSSIBLE INVOLVEMENT IN COLORECTAL CANCER; VARIANTS TRP-79 AND THR-445;
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.