Variant position: 648 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1166 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 QEREDIQNSSK-ELLGISDEC QMISPSDCQEENAVDVKQYRD
Mouse PEREDTQDNSK-ELLGISDEC QKISPPDCQEENAVDVQQYR
Chicken QEREDAQNTPKVELETSSDES RTIVPDDGQEDAADGHQP--
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 – 1166 Folliculin-interacting protein 1
486 – 1092 cDENN FNIP1/2-type
509 – 1166 Missing. In isoform 2.
Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling.
Baba M.; Hong S.-B.; Sharma N.; Warren M.B.; Nickerson M.L.; Iwamatsu A.; Esposito D.; Gillette W.K.; Hopkins R.F. III; Hartley J.L.; Furihata M.; Oishi S.; Zhen W.; Burke T.R. Jr.; Linehan W.M.; Schmidt L.S.; Zbar B.;
Proc. Natl. Acad. Sci. U.S.A. 103:15552-15557(2006)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; INTERACTION WITH FLCN; HSPCA; PRKAA1; PRKAB1 AND PRKAG1; PHOSPHORYLATION; TISSUE SPECIFICITY; IDENTIFICATION BY MASS SPECTROMETRY; VARIANTS CYS-76 AND ARG-648;
Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins.
Nagase T.; Kikuno R.; Ohara O.;
DNA Res. 8:319-327(2001)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 196-1166 (ISOFORM 3); VARIANT ARG-648;
The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 617-1166; VARIANT ARG-648;
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.