Variant position: 659 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 LPLLIDNYVPPLEGLPIFIL RLATEV-NWDEEKECFESLSKE
Mouse LPLLIDSYVPPLEGLPIFIL RLATEV-NWDEEKECFESLSK
Rat LPLLIDSYVPPLEGLPIFIL RLATEV-NW-DEEECFESLSK
Slime mold IPQVLDHYVPCTDNLPIFLL KLATEV-EWEFEKECFAGIVK
Baker's yeast LPLLLKGYIPSLVKLPFFIY RLGKEV-DWEDEQECLDGILR
Fission yeast VPMLSPKYHPPFEQLPLLIS SLTPKFFDWLDEKSCLNGIMK
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
The interaction of DNA mismatch repair proteins with human exonuclease I.
Schmutte C.; Sadoff M.M.; Shim K.-S.; Acharya S.; Fishel R.;
J. Biol. Chem. 276:33011-33018(2001)
Cited for: INTERACTION WITH EXO1 AND PMS2; CHARACTERIZATION OF VARIANTS HNPCC2 PRO-574; LYS-616 DEL; LEU-659 AND THR-681; CHARACTERIZATION OF VARIANT MMRCS LYS-616 DEL;
Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach.
Fidalgo P.; Almeida M.R.; West S.; Gaspar C.; Maia L.; Wijnen J.; Albuquerque C.; Curtis A.; Cravo M.; Fodde R.; Leitao C.N.; Burn J.;
Eur. J. Hum. Genet. 8:49-53(2000)
Cited for: VARIANTS HNPCC2 HIS-607; ALA-618 AND LEU-659; VARIANT MET-213;
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.