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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P40692: Variant p.Gly244Asp

DNA mismatch repair protein Mlh1
Gene: MLH1
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Variant information Variant position: help 244 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 Glycine (G) to Aspartate (D) at position 244 (G244D, p.Gly244Asp). 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 glycine (G) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In LYNCH2; decreased mismatch repair activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 244 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 VSRELIEIGCEDKTLAFKMN G YISNANYSVKKCIFLLFINH 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                         VSRELIEIGCEDKT-----------------------LAFK-MNGYISNANYSVKKCIF-LLFINH

Mouse                         VSRELIEVGCEDKT-----------------------LAFK

Rat                           VSRELIEVGCEDKT-----------------------LAFK

Slime mold                    LSKELKIITIDPNNPNPNNDDDDNISGSQIKNSNLNRLDFT

Baker's yeast                 VASNLITFHISKVED----------------------LNLE

Fission yeast                 VASHLRDFSLGEGQSSI--------------------VGFS
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
Beta strand 240 – 247



Literature citations
Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes.
Pensotti V.; Radice P.; Presciuttini S.; Calistri D.; Gazzoli I.; Grimalt Perez A.P.; Mondini P.; Buonsanti G.; Sala P.; Rossetti C.; Ranzani G.N.; Bertario L.; Pierotti M.A.;
Genes Chromosomes Cancer 19:135-142(1997)
Cited for: VARIANTS LYNCH2 PRO-128 AND ASP-244; VARIANT VAL-219; Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
Trojan J.; Zeuzem S.; Randolph A.; Hemmerle C.; Brieger A.; Raedle J.; Plotz G.; Jiricny J.; Marra G.;
Gastroenterology 122:211-219(2002)
Cited for: CHARACTERIZATION OF VARIANTS LYNCH2 MET-117; GLY-185; CYS-217; ASP-244 AND ALA-326; CHARACTERIZATION OF VARIANTS VAL-219 AND HIS-265; Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.
Wagner A.; Barrows A.; Wijnen J.T.; van der Klift H.; Franken P.F.; Verkuijlen P.; Nakagawa H.; Geugien M.; Jaghmohan-Changur S.; Breukel C.; Meijers-Heijboer H.; Morreau H.; van Puijenbroek M.; Burn J.; Coronel S.; Kinarski Y.; Okimoto R.; Watson P.; Lynch J.F.; de la Chapelle A.; Lynch H.T.; Fodde R.;
Am. J. Hum. Genet. 72:1088-1100(2003)
Cited for: VARIANTS LYNCH2 SER-29; ARG-67; LEU-185 AND ASP-244;
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.