Variant position: 379 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 MVKSTTSLTSSSTSGSSDKV--- YAHQMVRTDSREQKLDAFLQP
Mouse AARPTTGVASSSTSGSGDKV--- YAYQMVRTDSREQKLDAF
Rat AVKSTTGIASSSTSGSGDKV--- HAYQMVRTDSRDQKLDAF
Slime mold TQTKSTNNNNNPTSRKEPIE--- YAKDKIRSDSKSQTLDAF
Baker's yeast LRQAQVVENSYTTANSQLRKAKR QENKLVRIDASQAKITSF
Fission yeast ----SNTKNAESSSQKAVRT--- YENYLVRTDPRERSIKSM
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
Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.
Taylor C.F.; Charlton R.S.; Burn J.; Sheridan E.; Taylor G.R.;
Hum. Mutat. 22:428-433(2003)
Cited for: VARIANTS HNPCC2 CYS-18; ASP-101; LYS-182; CYS-379; ARG-559 AND LYS-616 DEL;
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.