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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P40692: Variant p.Arg659Leu

DNA mismatch repair protein Mlh1
Gene: MLH1
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Variant information Variant position: help 659 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Arginine (R) to Leucine (L) at position 659 (R659L, p.Arg659Leu). 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 (R) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 In LYNCH2. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 659 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 756 The length of the canonical sequence.
Location on the sequence: help LPLLIDNYVPPLEGLPIFIL R LATEVNWDEEKECFESLSKE 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                         LPLLIDNYVPPLEGLPIFILRLATE-VNWDEEKECFESLSKE

Mouse                         LPLLIDSYVPPLEGLPIFILRLATE-VNWDEEKECFESLSK

Rat                           LPLLIDSYVPPLEGLPIFILRLATE-VNWDEE-ECFESLSK

Slime mold                    IPQVLDHYVPCTDNLPIFLLKLATE-VEWEFEKECFAGIVK

Baker's yeast                 LPLLLKGYIPSLVKLPFFIYRLGKE-VDWEDEQECLDGILR

Fission yeast                 VPMLSPKYHPPFEQLPLLISSLTPKFFDWLDEKSCLNGIMK

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 2 – 756 DNA mismatch repair protein Mlh1
Helix 653 – 662



Literature citations
The interaction of DNA mismatch repair proteins with human exonuclease I.
Schmutte C.; Sadoff M.M.; Shim K.-S.; Acharya S.; Fishel R.;
J. Biol. Chem. 276:33011-33018(2001)
Cited for: INTERACTION WITH EXO1 AND PMS2; CHARACTERIZATION OF VARIANTS LYNCH2 PRO-574; LYS-616 DEL; LEU-659 AND THR-681; CHARACTERIZATION OF VARIANT MMRCS1 LYS-616 DEL; Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach.
Fidalgo P.; Almeida M.R.; West S.; Gaspar C.; Maia L.; Wijnen J.; Albuquerque C.; Curtis A.; Cravo M.; Fodde R.; Leitao C.N.; Burn J.;
Eur. J. Hum. Genet. 8:49-53(2000)
Cited for: VARIANTS LYNCH2 HIS-607; ALA-618 AND LEU-659; VARIANT MET-213;
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.