Variant position: 20 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 MSRQSTLYSFFPK-SPALSD ANKASARASREGGRAAAAPGA
Mouse MSRQSTLYSFFPK-SPALGD TKKAAAEASRQ---GAAASG
Drosophila GTPTNTLLNYFSK------- ----------------SPAF
Slime mold PIIEEGFDSFFDD-IPTEEL EPDLNSIPISSSQ-QTSTSN
Baker's yeast KMKQSSLLSFFSKQVP---- --------------SGTPSK
Fission yeast KTKQKTLFGFFSK-IPNVKQ EKSDSTL-------SSSSNH
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
14 – 14 Phosphoserine
1 – 302 Missing. In isoform 4.
Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?
Charames G.S.; Millar A.L.; Pal T.; Narod S.; Bapat B.;
Hum. Genet. 107:623-629(2000)
Cited for: VARIANTS COLORECTAL/ENDOMETRIAL CANCER VAL-20; ALA-878 AND HIS-901;
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
Drost M.; Zonneveld J.B.; van Hees S.; Rasmussen L.J.; Hofstra R.M.; de Wind N.;
Hum. Mutat. 33:488-494(2012)
Cited for: CHARACTERIZATION OF VARIANT HNPCC5 VAL-20; CHARACTERIZATION OF VARIANTS CRC HIS-976 AND ASP-1021; CHARACTERIZATION OF VARIANTS SER-25; VAL-326; VAL-396; VAL-492; CYS-503; ARG-522; ASN-610; CYS-850; ALA-878; TYR-1026; SER-1087 AND MET-1225;
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.