Variant position: 226 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 TLPNASTVDN--IRSIFGNAVS RELIEIGCEDKT-----------------------LAF-KMNGYI
Mouse TLPNATTVDN--IRSIFGNAVS RELIEVGCEDKT-------
Rat TLPNATTVDN--IRSIFGNAVS RELIEVGCEDKT-------
Slime mold TSGGQNSLEKDVIGSLYGTDLS KELKIITIDPNNPNPNNDD
Baker's yeast VKPSYTVQDR--IRTVFNKSVA SNLITFHISKVED------
Fission yeast LSSRLSKADK--IRHIYGPRVA SHLRDFSLGEGQSSI----
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
1 – 241 Missing. In isoform 2.
CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.
Maliaka Y.K.; Chudina A.P.; Belev N.F.; Alday P.; Bochkov N.P.; Buerstedde J.-M.;
Hum. Genet. 97:251-255(1996)
Cited for: VARIANTS HNPCC2 MET-117 AND LEU-226;
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.