Sequence information
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:
RMSFVKGWGAEYRRQTVTST
P CWIELHLNGPLQWLDKVLTQ
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 RMSFVKGWGAEYRRQTVTSTP CWIELHLNGPLQWLDKVLTQ
Mouse RMSFVKGWGAEYRRQTVTSTP CWIELHLNGPLQWLDKVLTQ
Rat RMSFVKGWGAEYRRQTVTSTP CWIELHLNGPLQWLDKVLTQ
Pig RMSFVKGWGAEYRRQTVTSTP CWIELHLNGPLQWLDKVLTQ
Chicken RMSFVKGWGAEYRRQTVTSTP CWIELHLNGPLQWLDKVLTQ
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
Chain
2 – 425
Mothers against decapentaplegic homolog 3
Domain
232 – 425
MH2
Modified residue
378 – 378
N6-acetyllysine
Mutagenesis
378 – 378
K -> Q. Increased transcriptional activity. No further increase in transcriptional activity with EP300.
Mutagenesis
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.
Mutagenesis
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.
Beta strand
392 – 400
Literature citations
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.;
Science 314:268-274(2006)
Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-393; INVOLVEMENT IN COLORECTAL CANCER;
Disclaimer:
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.