Variant position: 583 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 YTKNKTEYEEAQDAIVKEIV NISSGYVEPMQTLNDVLAQLD
Mouse YTKNKGEYEEAQDAIVKEIV NISSGYVEPMQTLNDVLAHLD
Rat YTKNKGEYEEAQDAIVKEIV NISSGYVEPMQTVNDVLAHLD
Bovine YTKNKTEYEEAQNAIVKEIV NISSGYVEPMQTLNDVLAQLD
Drosophila FASCRTRYEEQQLSIVEEII HVAVGYAAPLTLLNNELAQLD
Slime mold YKKWSAEYLDKQDGLAKRTL QIAASFVPLIEDLSSLIATLD
Baker's yeast TNILQKEYDKQQSALVREII NITLTYTPVFEKLSLVLAHLD
Fission yeast YMDHQKSYRYHQNGLAREVI KIAATYGPPLEAIGQVIAHLD
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
567 – 567 N6-acetyllysine
568 – 585
Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.
Wagner A.; Barrows A.; Wijnen J.T.; van der Klift H.; Franken P.F.; Verkuijlen P.; Nakagawa H.; Geugien M.; Jaghmohan-Changur S.; Breukel C.; Meijers-Heijboer H.; Morreau H.; van Puijenbroek M.; Burn J.; Coronel S.; Kinarski Y.; Okimoto R.; Watson P.; Lynch J.F.; de la Chapelle A.; Lynch H.T.; Fodde R.;
Am. J. Hum. Genet. 72:1088-1100(2003)
Cited for: VARIANTS HNPCC1 PRO-552; SER-583 AND PRO-636;
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.