Variant position: 76 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 NVLFDSSVKRRNEDISVSKL GSDAQVKVFGKCCQLKPGGDS
Mouse NVLFDSSVKRKNEDTSVSKL CNDAQVKVFGKCCQLKPGGDS
Chicken NVLFDSSAKRKIEDVSVSKL CSDAQVRVFGKCCQLKPGGDS
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
37 – 478 uDENN FNIP1/2-type
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;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANT CYS-76;
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.