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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P40692: Variant p.Ala111Val

DNA mismatch repair protein Mlh1
Gene: MLH1
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Variant information Variant position: help 111 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 Alanine (A) to Valine (V) at position 111 (A111V, p.Ala111Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) 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 In LYNCH2; uncertain significance. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 111 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 LASISTYGFRGEALASISHV A HVTITTKTADGKCAYRASYS 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                         LASISTYGFRGEALASISHVAHVTITTKTADGKCAYRASYS

Mouse                         LASISTYGFRGEALASISHVAHVTITTKTADGKCAYRASYS

Rat                           LAMISTYGFRGEALASISHVAHVTITTKTADGKCAYRASYS

Slime mold                    LRSIQSFGFRGEALSSISHVSHLKILTKTADSPCAYRACYL

Baker's yeast                 LSQIQTYGFRGEALASISHVARVTVTTKVKEDRCAWRVSYA

Fission yeast                 LQHLQTFGFRGEALASISHVAKVTVVTKLSSDIHAWKAFYV

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
Alternative sequence 1 – 241 Missing. In isoform 2.
Beta strand 110 – 118



Literature citations
Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds.
Nomura S.; Sugano K.; Kashiwabara H.; Taniguchi T.; Fukayama N.; Fujita S.; Akasu T.; Moriya Y.; Ohhigashi S.; Kakizoe T.; Sekiya T.;
Biochem. Biophys. Res. Commun. 271:120-129(2000)
Cited for: VARIANTS LYNCH2 VAL-111 AND PRO-588; VARIANTS VAL-219 AND ASP-384; Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
Kurzawski G.; Suchy J.; Lener M.; Klujszo-Grabowska E.; Kladny J.; Safranow K.; Jakubowska K.; Jakubowska A.; Huzarski T.; Byrski T.; Debniak T.; Cybulski C.; Gronwald J.; Oszurek O.; Oszutowska D.; Kowalska E.; Gozdz S.; Niepsuj S.; Slomski R.; Plawski A.; Lacka-Wojciechowska A.; Rozmiarek A.; Fiszer-Maliszewska L.; Bebenek M.; Sorokin D.; Sasiadek M.M.; Stembalska A.; Grzebieniak Z.; Kilar E.; Stawicka M.; Godlewski D.; Richter P.; Brozek I.; Wysocka B.; Limon J.; Jawien A.; Banaszkiewicz Z.; Janiszewska H.; Kowalczyk J.; Czudowska D.; Scott R.J.; Lubinski J.;
Clin. Genet. 69:40-47(2006)
Cited for: VARIANTS LYNCH2 LEU-28; LYS-35; ARG-67; VAL-111; MET-117; PRO-292; THR-441; LYS-618 DEL; PRO-623; ILE-657 DEL; THR-681; TRP-687 AND ARG-751;
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.