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UniProtKB/Swiss-Prot P52701: Variant p.Glu1193Lys

DNA mismatch repair protein Msh6
Gene: MSH6
Variant information

Variant position:  1193
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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:  From Glutamate (E) to Lysine (K) at position 1193 (E1193K, p.Glu1193Lys).
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:  Change from medium size and acidic (E) to large size and basic (K)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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:  In HNPCC5; decreased mismatch repair activity; displays marked impairment of heterodimerization with MSH2.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1193
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1360
The length of the canonical sequence.

Location on the sequence:   VFTRLGASDRIMSGESTFFV  E LSETASILMHATAHSLVLVD
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                         VFTRLGASDRIMSGESTFFVELSETASILMHATAHSLVLVD

Mouse                         VFTRLGASDRIMSGESTFFVELSETASILRHATAHSLVLVD

Chicken                       VFTRLGASDRIMSGESTFFVELSETSSILQHATEHSLVLVD

Drosophila                    IFTRLGAQDDILAGHSTFLVELNETSLILKHATCHSLVLLD

Slime mold                    IFTRLGANDNILAGQSTFMVELAETSAVLKYATKRSLVILD

Baker's yeast                 IMTRLGANDNIMQGKSTFFVELAETKKILDMATNRSLLVVD

Fission yeast                 IYTRLGANDDIMSARSTFMVELSETKKILDECGPKSLVILD

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.

TypePositionsDescription
Chain 1 – 1360 DNA mismatch repair protein Msh6
Alternative sequence 1069 – 1360 Missing. In isoform GTBP-alt.
Helix 1189 – 1203


Literature citations

Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
Kansikas M.; Kariola R.; Nystroem M.;
Hum. Mutat. 32:107-115(2011)
Cited for: CHARACTERIZATION OF VARIANTS HNPCC5 LEU-128; ILE-144; ARG-566; LEU-623; THR-728; GLY-881 DELINS LYS-SER; THR-1087; HIS-1095; LYS-1193 AND GLN-1354; CHARACTERIZATION OF VARIANT ARG-1087; FUNCTION;

MSH6 missense mutations are often associated with no or low cancer susceptibility.
Kariola R.; Hampel H.; Frankel W.L.; Raevaara T.E.; de la Chapelle A.; Nystroem-Lahti M.;
Br. J. Cancer 91:1287-1292(2004)
Cited for: VARIANTS LEU-128; LEU-623; THR-728 AND LYS-1193; CHARACTERIZATION OF VARIANTS LEU-128; LEU-623; THR-728 AND LYS-1193;

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.