Variant position: 182 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 862 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 LFSTLPVRHKEFQRNIKKEY AKMVQVLHAYCIISAGIRVSC
Mouse LFYTLPVRYKEFQRNIKKEY SKMVQVLQAYCIISAGVRVSC
Chicken LFHTLPVRHKEFQRNIKKEY AKMVQILQAYCIISKGVRINC
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 – 862 Mismatch repair endonuclease PMS2
180 – 183 EYAK -> QASV. In isoform 4.
177 – 194
Long-range PCR facilitates the identification of PMS2-specific mutations.
Clendenning M.; Hampel H.; LaJeunesse J.; Lindblom A.; Lockman J.; Nilbert M.; Senter L.; Sotamaa K.; de la Chapelle A.;
Hum. Mutat. 27:490-495(2006)
Cited for: VARIANTS HNPCC4 THR-182 AND ARG-797; VARIANTS VAL-18 AND LEU-563;
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