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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P43246: Variant p.Gln419Lys

DNA mismatch repair protein Msh2
Gene: MSH2
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Variant information Variant position: help 419 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Glutamine (Q) to Lysine (K) at position 419 (Q419K, p.Gln419Lys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (Q) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In CRC; uncertain significance; decreased mismatch repair activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 419 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 934 The length of the canonical sequence.
Location on the sequence: help ANLQDCYRLYQGINQLPNVI Q ALEKHEGKHQKLLLAVFVTP 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         ANLQDCYRLYQGINQLPNVIQALEKHEGKH------QKLLLAVFVTP

Mouse                         ANLQDCYRLYQGINQLPSVIQALEKYEGRH------QALLL

Rat                           ANLQDCYRLYQGVKQLPNVIQALEKYQGRH------QALLL

Bovine                        ANLQDCYRLYQGINQLPNVIQALEKYEGKH------QALFL

Drosophila                    ANLQDLFRIYQVILRTPKILKVLHELD---------NSTIE

Slime mold                    ATLEDCVNLYGIVTRLPVVLQSLNNHSSIH------QELIK

Baker's yeast                 GNLEDVLKIYQFSKRIPEIVQVFTSFLEDDSPTEPVNELVR

Fission yeast                 ASLEDVVRIYQMAKALPKIVTVLDSLTSEH------KDLVD

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 2 – 934 DNA mismatch repair protein Msh2
Cross 430 – 430 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Helix 414 – 423



Literature citations
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.;
Gastroenterology 111:307-317(1996)
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 LYNCH1 VAL-169; PHE-390; ALA-564 AND ARG-629; VARIANT CRC LYS-419;
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.