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UniProtKB/Swiss-Prot Q8TF40: Variant p.Gln648Arg

Folliculin-interacting protein 1
Gene: FNIP1
Variant information

Variant position:  648
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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:  From Glutamine (Q) to Arginine (R) at position 648 (Q648R, p.Gln648Arg).
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:  Change from medium size and polar (Q) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   QEREDIQNSSKELLGISDEC  Q MISPSDCQEENAVDVKQYRD
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-ELLGISDECQMISPSDCQEENAVDVKQYRD

Mouse                         PEREDTQDNSK-ELLGISDECQKISPPDCQEENAVDVQQYR

Chicken                       QEREDAQNTPKVELETSSDESRTIVPDDGQEDAADGHQP--

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.

TypePositionsDescription
Chain 1 – 1166 Folliculin-interacting protein 1
Domain 486 – 1092 cDENN FNIP1/2-type
Alternative sequence 509 – 1166 Missing. In isoform 2.


Literature citations

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;

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.