Variant position: 279 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 507 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 PGGGNLGMNSRKPDLRVVIP PSSKGMMPPLSEEEELELNTQ
Mouse PGGGSLGMNSRKPDLRVVIP PSSKGMMPPLSEEEELELNAQ
Rat PGGGSVGMNSRKPDLRVVIP PSSKGMMPP--------LNAQ
Pig PGGGNLGMNSRKPDLRVVIP PSSKGMMPPLSEEEELELNTQ
Bovine PGGGSLGMNSRKPDLRVVIP PSSKGMMPP--------LNTQ
Chicken PGGGGLGMNNRKPDLRVVIP PSSKGMMPPLTEEDELELNTQ
Xenopus laevis P-GGNLVMNSRKPDLRVVIP PSSKGMMPP--------LNTQ
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 – 507 Myocyte-specific enhancer factor 2A
266 – 283 Required for interaction with MAPKs
269 – 269 R -> A. Reduced p38 alpha- and beta2-mediated transcriptional activity; when associated with A-270.
270 – 270 K -> A. Reduced p38 alpha- and beta2-mediated transcriptional activity; when associated with A-269.
273 – 273 L -> A. Reduced p38 alpha- and beta2-mediated transcriptional activity; when associated with A-275.
275 – 275 V -> A. Reduced p38 alpha- and beta2-mediated transcriptional activity; when associated with A-273.
277 – 277 I -> A. Reduced p38 alpha- and beta2-mediated transcriptional activity; when associated with A-278.
278 – 278 P -> A. Reduced p38 alpha- and beta2-mediated transcriptional activity; when associated with A-277.
Transcription factor MEF2A mutations in patients with coronary artery disease.
Bhagavatula M.R.K.; Fan C.; Shen G.-Q.; Cassano J.; Plow E.F.; Topol E.J.; Wang Q.;
Hum. Mol. Genet. 13:3181-3188(2004)
Cited for: VARIANTS SER-263; LEU-279 AND ASP-283; CHARACTERIZATION OF VARIANTS SER-263; LEU-279 AND ASP-283;
The Pro279Leu variant in the transcription factor MEF2A is associated with myocardial infarction.
Gonzalez P.; Garcia-Castro M.; Reguero J.R.; Batalla A.; Ordonez A.G.; Palop R.L.; Lozano I.; Montes M.; Alvarez V.; Coto E.;
J. Med. Genet. 43:167-169(2006)
Cited for: VARIANT LEU-279; ASSOCIATION WITH SUSCEPTIBILITY TO MYOCARDIAL INFARCTION;
Lack of association between the MEF2A gene and myocardial infarction.
Lieb W.; Mayer B.; Koenig I.R.; Borwitzky I.; Goetz A.; Kain S.; Hengstenberg C.; Linsel-Nitschke P.; Fischer M.; Doering A.; Wichmann H.E.; Meitinger T.; Kreutz R.; Ziegler A.; Schunkert H.; Erdmann J.;
Cited for: VARIANT LEU-279; LACK OF ASSOCIATION WITH MYOCARDIAL INFARCTION;
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