Variant position: 69 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 VIVKEGGLKLIQIQDNGTGI RKEDLDIVCERFTTSKLQSFE
Mouse VVVKEGGLKLIQIQDNGTGI RKEDLDIVCERFTTSKLQTFE
Rat VIVREGGLKLIQIQDNGTGI RKEDLDIVCERFTTSKLQTFE
Slime mold VTVKDGGMKFLQIQDNGSGI RLEDMGIVCERFTTSKLTKFE
Baker's yeast ILVKEGGIKVLQITDNGSGI NKADLPILCERFTTSKLQKFE
Fission yeast VLLKDGGLKLLQITDNGSGI QYDDLPYLCQRFSTSKIDNFN
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
63 – 63 ATP
1 – 241 Missing. In isoform 2.
1 – 101 MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKSTSIQVIVKEGGLKLIQIQDNGTGIRKEDLDIVCERFTTSKLQSFEDLASISTYGFRG -> MAF. In isoform 3.
Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability.
Herfarth K.K.-F.; Ogunbiyi O.A.; Moley J.F.; Kodner I.J.; Wells S.A. Jr.; Goodfellow P.J.;
Hum. Mutat. 12:73-73(1998)
Cited for: VARIANT HNPCC2 LYS-69;
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