Variant position: 239 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 AQRMNTAFTPFLHQRNGNAA RSLTSLTSDDNLWACLHTSFA
Mouse AQRMNTAFTPFLHQRNGNAA RSLTSLTSDDNLWACLHTSFA
Rat AQRMNTAFTPFLHQRNGNAA RSLTSLTSDDNLWACLHTSFA
Bovine AQRMNTAFTPFLHQRNGNAA RSLTSLTNDDSLWACLHTSFA
Xenopus tropicalis PLRINTAFTPFLHQRNGNAA RSLTSLTSDDNLWACLHTSFA
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
86 – 242 uDENN FLCN/SMCR8-type
198 – 579 Missing. In isoform 3.
Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.
Woodward E.R.; Ricketts C.; Killick P.; Gad S.; Morris M.R.; Kavalier F.; Hodgson S.V.; Giraud S.; Bressac-de Paillerets B.; Chapman C.; Escudier B.; Latif F.; Richard S.; Maher E.R.;
Clin. Cancer Res. 14:5925-5930(2008)
Cited for: VARIANT RCC CYS-239;
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.