Sequence information
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:
LFSTLPVRHKEFQRNIKKEY
A KMVQVLHAYCIISAGIRVSC
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 LFSTLPVRHKEFQRNIKKEYA KMVQVLHAYCIISAGIRVSC
Mouse LFYTLPVRYKEFQRNIKKEYS KMVQVLQAYCIISAGVRVSC
Chicken LFHTLPVRHKEFQRNIKKEYA KMVQILQAYCIISKGVRINC
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
Chain
1 – 862
Mismatch repair endonuclease PMS2
Alternative sequence
180 – 183
EYAK -> QASV. In isoform 4.
Helix
177 – 194
Literature citations
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;
Disclaimer:
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.