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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P40692: Variant p.Thr662Pro

DNA mismatch repair protein Mlh1
Gene: MLH1
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Variant information Variant position: help 662 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 Threonine (T) to Proline (P) at position 662 (T662P, p.Thr662Pro). 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 medium size and polar (T) to medium size and hydrophobic (P) 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; 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 662 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 LIDNYVPPLEGLPIFILRLA T EVNWDEEKECFESLSKECAM 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                         LIDNYVPPLEGLPIFILRLATE-VNWDEEKECFESLSKECAM

Mouse                         LIDSYVPPLEGLPIFILRLATE-VNWDEEKECFESLSKECA

Rat                           LIDSYVPPLEGLPIFILRLATE-VNWDEE-ECFESLSKECA

Slime mold                    VLDHYVPCTDNLPIFLLKLATE-VEWEFEKECFAGIVKEIS

Baker's yeast                 LLKGYIPSLVKLPFFIYRLGKE-VDWEDEQECLDGILREIA

Fission yeast                 LSPKYHPPFEQLPLLISSLTPKFFDWLDEKSCLNGIMKAIA

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
Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?
Mueller-Koch Y.; Kopp R.; Lohse P.; Baretton G.; Stoetzer A.; Aust D.; Daum J.; Kerker B.; Gross M.; Dietmeier W.; Holinski-Feder E.;
Eur. J. Med. Res. 6:473-482(2001)
Cited for: VARIANTS LYNCH2 VAL-80; PRO-329; ARG-603; ALA-618; LEU-648 AND PRO-662; VARIANT HNPCC ARG-689; Seven novel MLH1 and MSH2 germline mutations in hereditary nonpolyposis colorectal cancer.
Krueger S.; Plaschke J.; Pistorius S.; Jeske B.; Haas S.; Kraemer H.; Hinterseher I.; Bier A.; Kreuz F.R.; Theissig F.; Saeger H.D.; Schackert H.K.;
Hum. Mutat. 19:82-82(2002)
Cited for: VARIANT LYNCH2 PRO-662; 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.