Variant position: 772 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1360 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 GSTEGTLLERVDTCHTPFGK RLLKQWLCAPLCNHYAINDRL
Mouse GSTEGTLLERLDTCHTPFGK RLLKQWLCAPLCSPSAISDRL
Drosophila -GEEHSLLSTLDHCCTKFGK RLLHHWLCAPSCDVSVIKERQ
Slime mold GSTEGTLFKLMDRCTTAFGK RMFRQWICRPLANKNAIVDRQ
Baker's yeast GSDKGTLFKLFNRAITPMGK RMMKKWLMHPLLRKNDIESRL
Fission yeast GGSEGTLFHLLCRCVTPFGK RLFHTWLCHPLRSGTAINARL
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
1 – 1360 DNA mismatch repair protein Msh6
768 – 779
Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.
Plaschke J.; Krueger S.; Dietmaier W.; Gebert J.; Sutter C.; Mangold E.; Pagenstecher C.; Holinski-Feder E.; Schulmann K.; Moeslein G.; Rueschoff J.; Engel C.; Evans G.; Schackert H.K.;
Hum. Mutat. 23:285-285(2004)
Cited for: VARIANT HNPCC5 TRP-772;
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