Variant position: 175 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 934 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 V-DGQRQVGVGYVDSIQRKLG LCEFPDNDQFSNLEALLIQIG
Mouse V-DGQRHVGVGYVDSTQRKLG LCEFPENDQFSNLEALLIQI
Rat V-DGQRQVGVGDVDSTQRKLG LCEFPDNDQFSNLEALLIQI
Bovine V-DGQRQVGVGYVDSTQRKLG LCEFPDNDQFSNLEALLIQI
Drosophila DGGGQRRVGVASVEQNDCKFQ LLEFLDDDFFTELEATVVLL
Slime mold E-KGSIVFGISFGDATFKTIG VSQFMDNDNLSNLSSFIMQM
Baker's yeast Q-DGNCIIGVAFIDTTAYKVG MLDIVDNEVYSNLESFLIQL
Fission yeast K-QDQRIIGVAFIDPILKKLG VSEFVDSDAYTNFEALIVQV
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 – 934 DNA mismatch repair protein Msh2
172 – 179
Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia.
Bartosova Z.; Fridrichova I.; Bujalkova M.; Wolf B.; Ilencikova D.; Krizan P.; Hlavcak P.; Palaj J.; Lukac L.; Lukacova M.; Boeoer A.; Haider R.; Jiricny J.; Nystroem-Lahti M.; Marra G.;
Hum. Mutat. 21:449-449(2003)
Cited for: VARIANT HNPCC1 PRO-175;
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