Variant position: 213 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 546 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 ELGGHMPRTAETLQQLLPGV GRYTAGAIASIAFGQATGVVD
Mouse ELGGHMPRTAETLQQLLPGV GRYTAGAIASIAFDQVTGVVD
Rat ELGGHVPRTAETLQQLLPGV GRYTAGAIASIAFDQVTGVVD
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
1 – 546 Adenine DNA glycosylase
233 – 233 Transition state stabilizer
233 – 233 D -> N. Loss of DNA glycosylase activity.
Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.
Dallosso A.R.; Dolwani S.; Jones N.; Jones S.; Colley J.; Maynard J.; Idziaszczyk S.; Humphreys V.; Arnold J.; Donaldson A.; Eccles D.; Ellis A.; Evans D.G.; Frayling I.M.; Hes F.J.; Houlston R.S.; Maher E.R.; Nielsen M.; Parry S.; Tyler E.; Moskvina V.; Cheadle J.P.; Sampson J.R.;
Cited for: VARIANTS FAP2 GLU-213; SER-235 AND MET-474;
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