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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P40692: Variant p.Asn551Thr

DNA mismatch repair protein Mlh1
Gene: MLH1
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Variant information Variant position: help 551 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 Asparagine (N) to Threonine (T) at position 551 (N551T, p.Asn551Thr). 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 polar. 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; no effect on MLH1 splicing. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 551 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 VGCVNPQWALAQHQTKLYLL N TTKLSEELFYQILIYDFANF 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                         VG--CVNPQWALAQHQTKLYLLNTTKLSEELFYQILIYDFANF

Mouse                         VG--CVNPQWALAQHQTKLYLLNTTKLSEELFYQILIYDFA

Rat                           VG--CVNPQWALAQHQTKLYLLNTTKLSEELFYQILIYDFA

Slime mold                    VG--CLDHSYALVQFGKKLYLINLENITKELFYQLSLLRFS

Baker's yeast                 VGVVDEERRLAAIQHDLKLFLIDYGSVCYELFYQIGLTDFA

Fission yeast                 VGLVCPTRRIAAVQHNIGLYVVDYGKLSYHLFYQICLTEFG

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 410 – 650 Interaction with EXO1
Beta strand 546 – 551



Literature citations
Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families.
Wang Q.; Desseigne F.; Lasset C.; Saurin J.-C.; Navarro C.; Yagci T.; Keser I.; Bagci H.; Luleci G.; Gelen T.; Chayvialle J.-A.; Puisieux A.; Ozturk M.;
Int. J. Cancer 73:831-836(1997)
Cited for: VARIANTS LYNCH2 GLY-182; THR-295 AND THR-551; Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer.
Hutter P.; Couturier A.; Membrez V.; Joris F.; Sappino A.-P.; Chappuis P.O.;
Int. J. Cancer 78:680-684(1998)
Cited for: VARIANTS LYNCH2 ARG-67; ILE-262 DEL; THR-551 AND PHE-565; VARIANTS VAL-219 AND MET-716; A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
Tournier I.; Vezain M.; Martins A.; Charbonnier F.; Baert-Desurmont S.; Olschwang S.; Wang Q.; Buisine M.P.; Soret J.; Tazi J.; Frebourg T.; Tosi M.;
Hum. Mutat. 29:1412-1424(2008)
Cited for: VARIANT LYNCH2 ILE-330 DEL; VARIANTS HIS-41; ARG-67; ARG-77; SER-98; SER-101; ASP-101; LYS-116; MET-117; ASN-126; MET-213; SER-215; SER-216; PHE-260; CYS-265; HIS-265; ASP-320; ALA-326; ILE-330 DEL; TRP-474; GLN-474; ASP-539; PRO-549; THR-551; ARG-585; ARG-603; HIS-607; PRO-619; SER-640; LEU-640; VAL-655; SER-656; ARG-666; THR-681 AND ARG-689;
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.