Variant position: 283 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 934 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 NQVAVSSLSAVIKFL--ELLSD D------SNFGQFELTTFDFSQYMKLD
Mouse NQVAVSSLSAVIKFL--ELLSD D------SNFGQFELATFD
Rat NQVAVSSLSAVIKFL--ELLSD D------SNFGQFELATFD
Bovine NQVAVSSLSAVIKFL--ELLSD D------SNFGQFELTTFD
Drosophila LQLASNALKTAIKYL--DLVND A------GNLGHYEIKQLD
Slime mold QEHAIQSASCLIKHL--DLLSN P------NYFGKFKLEKYD
Baker's yeast SKLSMGACNALIGYL--QLLSE Q------DQVGKYELVEHK
Fission yeast LQLAMASCNALLRYLGPALLNP DMEDDRENTSRKLHLYHHN
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 – 934 DNA mismatch repair protein Msh2
283 – 285
Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes.
Wehner M.; Mangold E.; Sengteller M.; Friedrichs N.; Aretz S.; Friedl W.; Propping P.; Pagenstecher C.;
Eur. J. Hum. Genet. 13:983-986(2005)
Cited for: VARIANT HNPCC1 TYR-283;
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