Variant position: 128 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 SHVAHVTITTKTADGKCAYR ASYSDGKLKAP--------PKPCAGNQGT
Mouse SHVAHVTITTKTADGKCAYR ASYSDGKLQAP--------PK
Rat SHVAHVTITTKTADGKCAYR ASYSDGKLQAP--------PK
Slime mold SHVSHLKILTKTADSPCAYR ACYLNGKLTPPSPNEQSSDPK
Baker's yeast SHVARVTVTTKVKEDRCAWR VSYAEGKMLES--------PK
Fission yeast SHVAKVTVVTKLSSDIHAWK AFYVDGALAPISPG-MSPAPQ
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.
122 – 131
Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes.
Pensotti V.; Radice P.; Presciuttini S.; Calistri D.; Gazzoli I.; Grimalt Perez A.P.; Mondini P.; Buonsanti G.; Sala P.; Rossetti C.; Ranzani G.N.; Bertario L.; Pierotti M.A.;
Genes Chromosomes Cancer 19:135-142(1997)
Cited for: VARIANTS HNPCC2 PRO-128 AND ASP-244; VARIANT VAL-219;
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.