Variant position: 508 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:
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 AALTNQNLSVDVVDQCLVCL KEEWMNKVKVLFKFTKVDSRP
Mouse AALTNQNLSVDVVDQCLICL KEEWMNKVKVLFKFTKVDSRP
Rat AALTNQNLSVDVVDQCLVCL KEEWMNKVKVLFKFTKVDSRP
Bovine AALTNQNLSVDVVDQCLVCL KEEWMNKVKVLFKFTKVDSRP
Xenopus tropicalis AALSNENLSMDVVDQCLICL KEEWMNKVKVLFKFTKVDSRP
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.
Type Positions Description
1 – 579 Folliculin
198 – 579 Missing. In isoform 3.
343 – 579 Missing. In isoform 2.
497 – 521
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports.
Toro J.R.; Wei M.H.; Glenn G.M.; Weinreich M.; Toure O.; Vocke C.; Turner M.; Choyke P.; Merino M.J.; Pinto P.A.; Steinberg S.M.; Schmidt L.S.; Linehan W.M.;
J. Med. Genet. 45:321-331(2008)
Cited for: VARIANT BHD ARG-508;
Birt Hogg-Dube syndrome-associated FLCN mutations disrupt protein stability.
Nahorski M.S.; Reiman A.; Lim D.H.; Nookala R.K.; Seabra L.; Lu X.; Fenton J.; Boora U.; Nordenskjold M.; Latif F.; Hurst L.D.; Maher E.R.;
Hum. Mutat. 32:921-929(2011)
Cited for: VARIANT CYS-362; CHARACTERIZATION OF VARIANTS PHE-157 DEL; CYS-239; CYS-362 AND ARG-508;
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.