Variant position: 655 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 756 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human N--------LIGLPLLIDNYVPPLEGLP IFILRLATEV-NWDEEKECFES
Mouse N--------LIGLPLLIDSYVPPLEGLP IFILRLATEV-NW
Rat N--------LIGLPLLIDSYVPPLEGLP IFILRLATEV-NW
Slime mold E--------LVGIPQVLDHYVPCTDNLP IFLLKLATEV-EW
Baker's yeast LDNDLKSVKLKSLPLLLKGYIPSLVKLP FFIYRLGKEV-DW
Fission yeast L--------LTAVPMLSPKYHPPFEQLP LLISSLTPKFFDW
Sequence annotation in neighborhood: 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.
Type Positions Description
2 – 756 DNA mismatch repair protein Mlh1
653 – 662
Microsatellite instability and mutation analysis of candidate genes in unselected Sardinian patients with endometrial carcinoma.
Baldinu P.; Cossu A.; Manca A.; Satta M.P.; Pisano M.; Casula M.; Dessole S.; Pintus A.; Tanda F.; Palmieri G.;
Cited for: VARIANTS VAL-219 AND VAL-655;
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 HNPCC2 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;
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.