Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P42345: Variant p.Leu2220Phe

Serine/threonine-protein kinase mTOR
Gene: MTOR
Feedback?
Variant information Variant position: help 2220 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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: help From Leucine (L) to Phenylalanine (F) at position 2220 (L2220F, p.Leu2220Phe). 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: help Change from medium size and hydrophobic (L) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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

Variant description: help Found in a renal cell carcinoma sample; somatic mutation. Any additional useful information about the variant.


Sequence information Variant position: help 2220 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2549 The length of the canonical sequence.
Location on the sequence: help QLFGLVNTLLANDPTSLRKN L SIQRYAVIPLSTNSGLIGWV 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         QLFGLVNTLLANDPTSLRKNLSIQRYAVIPLSTNSGLIGWV

Mouse                         QLFGLVNTLLANDPTSLRKNLSIQRYAVIPLSTNSGLIGWV

Rat                           QLFGLVNTLLANDPTSLRKNLSIQRYAVIPLSTNSGLIGWV

Sequence annotation in neighborhood: help 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 – 2549 Serine/threonine-protein kinase mTOR
Domain 2156 – 2469 PI3K/PI4K catalytic
Binding site 2225 – 2225
Binding site 2238 – 2238
Binding site 2239 – 2239
Binding site 2240 – 2240



Literature citations
Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
Varela I.; Tarpey P.; Raine K.; Huang D.; Ong C.K.; Stephens P.; Davies H.; Jones D.; Lin M.L.; Teague J.; Bignell G.; Butler A.; Cho J.; Dalgliesh G.L.; Galappaththige D.; Greenman C.; Hardy C.; Jia M.; Latimer C.; Lau K.W.; Marshall J.; McLaren S.; Menzies A.; Mudie L.; Stebbings L.; Largaespada D.A.; Wessels L.F.A.; Richard S.; Kahnoski R.J.; Anema J.; Tuveson D.A.; Perez-Mancera P.A.; Mustonen V.; Fischer A.; Adams D.J.; Rust A.; Chan-On W.; Subimerb C.; Dykema K.; Furge K.; Campbell P.J.; Teh B.T.; Stratton M.R.; Futreal P.A.;
Nature 469:539-542(2011)
Cited for: VARIANTS PHE-2220 AND ALA-2406;
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.