Variant position: 305 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 NFGQFELTTFDFSQYMKLDI AAVRALNLFQ-----------------GSVEDTTGSQS
Mouse NFGQFELATFDFSQYMKLDM AAVRALNLFQ-----------
Rat NFGQFELATFDFSQYMKLDM AAVRALNLFQ-----------
Bovine NFGQFELTTFDFSQYMKLDI AAVRALNLFQ-----------
Drosophila NLGHYEIKQLDLNRFVHLDS AAVAALNIMP-----------
Slime mold YFGKFKLEKYDLDRYMKLDS SSFKGLHIIDLKDSSVSAAAG
Baker's yeast QVGKYELVEHKLKEFMKLDA SAIKALNLFPQGPQNPFGSNN
Fission yeast TSRKLHLYHHNLEQYMRLDI AAVRSLNLLP-----------
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
304 – 309
Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.
Wijnen J.; Khan P.M.; Vasen H.; van der Klift H.; Mulder A.; van Leeuwen-Cornelisse I.; Bakker B.; Losekoot M.; Moeller P.; Fodde R.;
Am. J. Hum. Genet. 61:329-335(1997)
Cited for: VARIANTS HNPCC1 THR-305; ASN-596 DEL AND THR-834;
Functional analysis of HNPCC-related missense mutations in MSH2.
Lutzen A.; de Wind N.; Georgijevic D.; Nielsen F.C.; Rasmussen L.J.;
Mutat. Res. 645:44-55(2008)
Cited for: CHARACTERIZATION OF VARIANTS HNPCC1 HIS-167; THR-305: LEU-622; ARG-639; ARG-674; PHE-697 AND THR-834;
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
Drost M.; Zonneveld J.B.; van Hees S.; Rasmussen L.J.; Hofstra R.M.; de Wind N.;
Hum. Mutat. 33:488-494(2012)
Cited for: CHARACTERIZATION OF VARIANTS HNPCC1 MET-44; VAL-45; HIS-167; THR-305; PHE-390; ASN-596 DEL; ARG-639; ARG-674; PHE-697; PHE-723 AND GLY-886; CHARACTERIZATION OF VARIANTS ASP-165; HIS-177; VAL-272; LEU-385; LEU-519; ALA-675; GLU-759; VAL-805; GLY-843 AND LEU-860;
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.