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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8NFG4: Variant p.Glu132Lys

Folliculin
Gene: FLCN
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Variant information Variant position: help 132 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Glutamate (E) to Lysine (K) at position 132 (E132K, p.Glu132Lys). 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 medium size and acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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
Variant description: help In PSP. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 132 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 PSHPQLFSIVRQACVRSLSC E VCPGREGPIFFGDEQHGFVF 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                         PSHPQLFSIVRQACVRSLSCEVCPGREGPIFFGDEQHGFVF

Mouse                         PNHPQLFSIVRQACVRSLSCEVCPGREGPIFFGDEQHGFVF

Rat                           PNHPQLFSIVRQACVRSLSCEVCPGREGPIFFGDEQHGFVF

Bovine                        PNHPQLFSIVRQACVRSLSCEVCPGREGPIFFGDEQHGFVF

Xenopus tropicalis            PNHPQLFSIVRQACVRSLSCEVCPGREGPIFFGDEQHGFVF
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
Domain 86 – 242 uDENN FLCN/SMCR8-type
Mutagenesis 118 – 118 F -> D. Does not assemble into a stable folliculin complex (LFC), preventing localization to the lysosomal membrane upon amino acid starvation.



Literature citations
Novel mutations in the folliculin gene associated with spontaneous pneumothorax.
Frohlich B.A.; Zeitz C.; Matyas G.; Alkadhi H.; Tuor C.; Berger W.; Russi E.W.;
Eur. Respir. J. 32:1316-1320(2008)
Cited for: VARIANT PSP LYS-132;
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.