Variant position: 393 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 425 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 RMSFVKGWGAEYRRQTVTST PCWIELHLNGPLQWLDKVLTQ
Mouse RMSFVKGWGAEYRRQTVTST PCWIELHLNGPLQWLDKVLTQ
Rat RMSFVKGWGAEYRRQTVTST PCWIELHLNGPLQWLDKVLTQ
Pig RMSFVKGWGAEYRRQTVTST PCWIELHLNGPLQWLDKVLTQ
Chicken RMSFVKGWGAEYRRQTVTST PCWIELHLNGPLQWLDKVLTQ
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 – 425 Mothers against decapentaplegic homolog 3
232 – 425 MH2
378 – 378 N6-acetyllysine
378 – 378 K -> Q. Increased transcriptional activity. No further increase in transcriptional activity with EP300.
378 – 378 K -> R. Greatly reduced acetylation and 85% reduction in transcriptional activity. Completely abolishes acetylation and 97% reduction in transcriptional activity; when associated with R-333; R-341 and R-409.
409 – 409 K -> R. No effect on acetylation. Completely abolishes acetylation and 97% reduction in transcriptional activity; when associated with R-333; R-341 and R-378.
392 – 400
The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-393; INVOLVEMENT IN COLORECTAL CANCER;
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