Variant position: 813 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 QIPTVNNLHVTALT---------TEETLT MLYQVKKGVCDQSFGIHVAEL
Mouse QIPTVNNLHVTALT---------TEETLT MLYQVKKGVCDQ
Rat QIPTVNNLHVTALT---------TEETLT MLYQVKTGVCDQ
Bovine QIPTVNNLHVTALT---------TEETLT MLYQVKKGVCDQ
Drosophila TLSTVKNCHMAAVA---------DADDFT LLYQVRSGVMEK
Slime mold LLPMVKNLHVSAST---------QNNTFT LLYKVEQGPCDQ
Baker's yeast KLPNVKNMHVVAHIEKNLKEQKHDDEDIT LLYKVEPGISDQ
Fission yeast EITTVKNLHVTAYVGDS------ESKDVA LLYNVCEGASDR
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
810 – 820
Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.
Gille J.J.P.; Hogervorst F.B.L.; Pals G.; Wijnen J.T.; van Schooten R.J.; Dommering C.J.; Meijer G.A.; Craanen M.E.; Nederlof P.M.; de Jong D.; McElgunn C.J.; Schouten J.P.; Menko F.H.;
Br. J. Cancer 87:892-897(2002)
Cited for: VARIANT HNPCC1 VAL-813;
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