Variant position: 182 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 ASLEEVNQLWAGLGYYSRGR RLQEGARKVVEELGGHMPRTA
Mouse ASLEEVNQLWSGLGYYSRGR RLQEGARKVVEELGGHMPRTA
Rat ASLEEVNQLWSGLGYYSRGR RLQEGARKVVEELGGHVPRTA
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.
Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis.
Cattaneo F.; Molatore S.; Mihalatos M.; Apessos A.; Venesio T.; Bione S.; Grignani P.; Nasioulas G.; Ranzani G.N.;
Genet. Med. 9:836-841(2007)
Cited for: VARIANTS FAP2 CYS-176; CYS-179; TRP-182 AND ASP-393;
Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis.
D'Agostino V.G.; Minoprio A.; Torreri P.; Marinoni I.; Bossa C.; Petrucci T.C.; Albertini A.M.; Ranzani G.N.; Bignami M.; Mazzei F.;
DNA Repair 9:700-707(2010)
Cited for: CHARACTERIZATION OF VARIANTS FAP2 ILE-TRP-148 INS; CYS-176; TRP-182; ASP-393 AND GLU-477 DEL; FUNCTION; CATALYTIC ACTIVITY;
MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.
Molatore S.; Russo M.T.; D'Agostino V.G.; Barone F.; Matsumoto Y.; Albertini A.M.; Minoprio A.; Degan P.; Mazzei F.; Bignami M.; Ranzani G.N.;
Hum. Mutat. 31:159-166(2010)
Cited for: VARIANTS FAP2 ILE-TRP-148 INS; TRP-182 AND GLU-477 DEL; CHARACTERIZATION OF VARIANTS FAP2 ILE-TRP-148 INS; CYS-176; TRP-182; ASP-393 AND GLU-477 DEL;
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