Variant position: 566 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:
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 EEDSSGH-------------TRAYGVCFVDTSL GKFFIGQFSDDRHCSRFRTLV
Mouse EEETSGH-------------TRVYGVCFVDTSL GKFFIGQF
Chicken -EDSSGQ--------------RVYGVCFVDTSV GKFYVGQF
Drosophila DEGTCSR----------------YGVCFIDTSI GDFHLGEF
Slime mold EYD------------------KQYGVCFVDVSI GEFYLCTI
Baker's yeast PGNFYNETQLDSSTIVQKLNTKIFGAAFIDTAT GELQMLEF
Fission yeast LQSDNEE--------------PSFGICFIDTST GGFHMCEF
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
1 – 1360 DNA mismatch repair protein Msh6
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;
Germ-line msh6 mutations in colorectal cancer families.
Kolodner R.D.; Tytell J.D.; Schmeits J.L.; Kane M.F.; Das Gupta R.; Weger J.; Wahlberg S.; Fox E.A.; Peel D.; Ziogas A.; Garber J.E.; Syngal S.; Anton-Culver H.; Li F.P.;
Cancer Res. 59:5068-5074(1999)
Cited for: VARIANTS CRC ILE-285; ARG-566; GLY-803 AND THR-1087; VARIANTS GLU-39; ASP-220; VAL-396 AND LEU-800;
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.