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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P40692: Variant p.Asp485Glu

DNA mismatch repair protein Mlh1
Gene: MLH1
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Variant information Variant position: help 485 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 Aspartate (D) to Glutamate (E) at position 485 (D485E, p.Asp485Glu). 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 Similar physico-chemical property. Both residues are medium size and acidic. 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 485 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 TSSNPRKRHREDSDVEMVED D SRKEMTAACTPRRRIINLTS 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                         TSS--NPRKRHREDSDVEMVEDDSRK-EMTAACTPRR----RI-INLTS

Mouse                         TSSPGSSRKRHREDSDVEMVENASGK-EMTAACYPRR----

Rat                           PSSPGSSRKRHPEDSDVEMMENDSRK-EMTAACYPRR----

Slime mold                    TTTTTTTTTTATTKSNSPASKNDIKKLQEHTFITPRKTRKY

Baker's yeast                 YKVPSIADD---EKNALPISKDGYIR-------VPKE----

Fission yeast                 ANSNKNATNDIKDLQTEEIVEEGNS----------------
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
Region 400 – 491 Disordered
Region 410 – 650 Interaction with EXO1
Compositional bias 464 – 491 Basic and acidic residues
Modified residue 477 – 477 Phosphoserine
Mutagenesis 471 – 471 K -> N. Affects binding to importins alpha, including KPNA2, hence may affect import to the nucleus.
Mutagenesis 472 – 472 R -> N. Affects binding to importins alpha, including KPNA2, hence may affect import to the nucleus.



Literature citations
Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer.
Heinimann K.; Scott R.J.; Buerstedde J.-M.; Weber W.; Siebold K.; Attenhofer M.; Mueller H.; Dobbie Z.;
Cancer 85:2512-2518(1999)
Cited for: VARIANTS LYNCH2 ARG-67; ARG-117 AND GLU-485; VARIANT VAL-219;
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.