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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q5S007: Variant p.Lys1359Ile

Leucine-rich repeat serine/threonine-protein kinase 2
Gene: LRRK2
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Variant information Variant position: help 1359 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 Lysine (K) to Isoleucine (I) at position 1359 (K1359I, p.Lys1359Ile). 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 large size and basic (K) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 1359 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2527 The length of the canonical sequence.
Location on the sequence: help IVGNTGSGKTTLLQQLMKTK K SDLGMQSATVGIDVKDWPIQ 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                         IVGNTGSGKTTLLQQLMKTKKSDLGMQSATVGIDVKDWPIQ

Mouse                         IVGNTGSGKTTLLQQLMKMKKPELGMQGATVGIDVRDWSIQ

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 – 2527 Leucine-rich repeat serine/threonine-protein kinase 2
Domain 1328 – 1511 Roc
Mutagenesis 1343 – 1343 T -> G. Decreased kinase activity; when associated with Q-1398.
Mutagenesis 1347 – 1347 K -> A. GTPase-dead mutant. Loss of interaction with SEC16A and impaired ability to recruit SEC16A to endoplasmic reticulum exit sites.
Mutagenesis 1348 – 1348 T -> N. Loss of GTP binding. Inhibits autophosphorylation and RAB10 phosphorylation; when associated with G-1441, C-1699, or S-2019.
Beta strand 1357 – 1359



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: VARIANT ILE-1359;
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.