Variant position: 67 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 IQVIVKEGGLKLIQIQDNGT GIRKEDLDIVCERFTTSKLQS
Mouse IQVVVKEGGLKLIQIQDNGT GIRKEDLDIVCERFTTSKLQT
Rat IQVIVREGGLKLIQIQDNGT GIRKEDLDIVCERFTTSKLQT
Slime mold ITVTVKDGGMKFLQIQDNGS GIRLEDMGIVCERFTTSKLTK
Baker's yeast IDILVKEGGIKVLQITDNGS GINKADLPILCERFTTSKLQK
Fission yeast IDVLLKDGGLKLLQITDNGS GIQYDDLPYLCQRFSTSKIDN
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.
Neurofibromatosis and early onset of cancers in hMLH1-deficient children.
Wang Q.; Lasset C.; Desseigne F.; Frappaz D.; Bergeron C.; Navarro C.; Ruano E.; Puisieux A.;
Cancer Res. 59:294-297(1999)
Cited for: VARIANT HNPCC2 TRP-67;
Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.
Wang Q.; Lasset C.; Desseigne F.; Saurin J.-C.; Maugard C.; Navarro C.; Ruano E.; Descos L.; Trillet-Lenoir V.; Bosset J.-F.; Puisieux A.;
Hum. Genet. 105:79-85(1999)
Cited for: VARIANTS HNPCC2 TRP-67; MET-117; GLY-182 AND LYS-616 DEL; VARIANT HNPCC TRP-755;
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.