Variant position: 582 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 QILIYDFANFGVLRLSEPAP LFDLAMLALDSPESGWTEEDG
Mouse QILIYDFANFGVLRLSEPAP LFDLAMLALDSPESGWTEDDG
Rat QILIYDFANFGVLRLPEPAP LFDFAMLALDSPESGWTEEDG
Slime mold QLSLLRFSDFDSIKFSQSLS IYSLLLVSLDSPLSGWMESDG
Baker's yeast QIGLTDFANFGKINLQSTNV SDDIVLYNLLSEFDE-LNDDA
Fission yeast QICLTEFGNYGEFVLETPLS ISDLFEIV-----NG-DEDKS
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
410 – 650 Interaction with EXO1
582 – 590
Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC).
Han H.-J.; Maruyama M.; Baba S.; Park J.-G.; Nakamura Y.;
Hum. Mol. Genet. 4:237-242(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HNPCC2 LEU-542; PRO-574; VAL-582 AND THR-618;
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.