Variant position: 419 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 ANLQDCYRLYQGINQLPNVI QAL------EKHEGKHQKLLLAVFVTP
Mouse ANLQDCYRLYQGINQLPSVI QAL------EKYEGRHQALLL
Rat ANLQDCYRLYQGVKQLPNVI QAL------EKYQGRHQALLL
Bovine ANLQDCYRLYQGINQLPNVI QAL------EKYEGKHQALFL
Drosophila ANLQDLFRIYQVILRTPKIL KVL---------HELDNSTIE
Slime mold ATLEDCVNLYGIVTRLPVVL QSL------NNHSSIHQELIK
Baker's yeast GNLEDVLKIYQFSKRIPEIV QVFTSFLEDDSPTEPVNELVR
Fission yeast ASLEDVVRIYQMAKALPKIV TVL------DSLTSEHKDLVD
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
430 – 430 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
414 – 423
Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer.
Konishi M.; Kikuchi-Yanoshita R.; Tanaka K.; Muraoka M.; Onda A.; Okumura Y.; Kishi N.; Iwama T.; Mori T.; Koike M.; Ushio K.; Chiba M.; Nomizu S.; Konishi F.; Utsunomiya J.; Miyaki M.;
Cited for: VARIANTS PHE-390 AND LYS-419;
Mutator phenotypes of common polymorphisms and missense mutations in MSH2.
Drotschmann K.; Clark A.B.; Kunkel T.A.;
Curr. Biol. 9:907-910(1999)
Cited for: CHARACTERIZATION OF VARIANTS ASP-322; PHE-390; LYS-419; TYR-506; PRO-524; LEU-622 AND PHE-697;
Oncogenic pathway of sporadic colorectal cancer with novel germline missense mutations in the hMSH2 gene.
Yamada K.; Zhong X.; Kanazawa S.; Koike J.; Tsujita K.; Hemmi H.;
Oncol. Rep. 10:859-866(2003)
Cited for: VARIANTS CRC SER-40; VAL-169; ARG-203; PHE-390; LYS-419; CYS-619 AND ARG-629; VARIANT MET-8;
Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia.
Lee S.-C.; Guo J.-Y.; Lim R.; Soo R.; Koay E.; Salto-Tellez M.; Leong A.; Goh B.-C.;
Clin. Genet. 68:137-145(2005)
Cited for: VARIANTS HNPCC1 VAL-169; PHE-390; ALA-564 AND ARG-629; VARIANT CRC LYS-419;
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.