Variant position: 485 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 756 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 TSS--NPRKRHREDSDVEMVED DSRK-EMTAACTPRR----RIINLTS
Mouse TSSPGSSRKRHREDSDVEMVEN ASGK-EMTAACYPRR----
Rat PSSPGSSRKRHPEDSDVEMMEN DSRK-EMTAACYPRR----
Slime mold TTTTTTTTTTATTKSNSPASKN DIKKLQEHTFITPRKTRKY
Baker's yeast LGDYKVPSIADDEKNALPISKD G----------YIRVPKER
Fission yeast ANSNKNATNDIKDLQTEEIVEE G------------------
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 – 756 DNA mismatch repair protein Mlh1
400 – 491 Disordered
410 – 650 Interaction with EXO1
464 – 491 Basic and acidic residues
477 – 477 Phosphoserine
hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer.
Kim J.C.; Kim H.C.; Roh S.A.; Koo K.H.; Lee D.H.; Yu C.S.; Lee J.H.; Kim T.W.; Lee H.I.; Beck N.E.; Bodmer W.F.;
Cancer Detect. Prev. 25:503-510(2001)
Cited for: VARIANTS GASTRIC CANCER ARG-106; GLN-109 AND LYS-635; VARIANTS HNPCC2 GLY-234; ILE-321; HIS-485 AND ALA-631; VARIANT CRC ILE-472;
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.