Variant position: 750 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 NLTAVNEAVLIENLEIFRKN GFDFVIDENAPVTERAKLISL
Mouse NLTAVNEAVLIENLEIFRKN GFDFVIDEDAPVTERAKLISL
Chicken NLTAVNETVLIENLEIFRKN GFDFVINENAPVTQRVKLISL
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
184 – 862 Missing. In isoform 4.
573 – 862 Missing. In isoform 3.
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
Senter L.; Clendenning M.; Sotamaa K.; Hampel H.; Green J.; Potter J.D.; Lindblom A.; Lagerstedt K.; Thibodeau S.N.; Lindor N.M.; Young J.; Winship I.; Dowty J.G.; White D.M.; Hopper J.L.; Baglietto L.; Jenkins M.A.; de la Chapelle A.;
Cited for: VARIANTS HNPCC4 ASN-46; ILE-46; PRO-205; ILE-622; ALA-663; LYS-705; ASP-750 AND TYR-843; VARIANT LEU-563;
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
Drost M.; Koppejan H.; de Wind N.;
Hum. Mutat. 34:1477-1480(2013)
Cited for: CHARACTERIZATION OF VARIANTS VAL-18; GLN-20; ALA-41; GLU-60; THR-423; LYS-485; ALA-511; MET-511; GLU-541; LEU-563; ILE-571; SER-597 AND ALA-857; CHARACTERIZATION OF VARIANTS HNPCC4 ASN-46; ILE-46; PRO-205; GLU-207; VAL-263; GLN-479; ILE-622; ALA-663; LYS-705; ASP-750; ARG-797 AND TYR-843; MUTAGENESIS OF GLU-41 AND TYR-519;
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.