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UniProtKB/Swiss-Prot Q02078: Variant p.Pro279Leu

Myocyte-specific enhancer factor 2A
Gene: MEF2A
Variant information

Variant position:  279
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Proline (P) to Leucine (L) at position 279 (P279L, p.Pro279Leu).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   PGGGNLGMNSRKPDLRVVIP  P SSKGMMPPLSEEEELELNTQ
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                         PGGGNLGMNSRKPDLRVVIPPSSKGMMPPLSEEEELELNTQ

Mouse                         PGGGSLGMNSRKPDLRVVIPPSSKGMMPPLSEEEELELNAQ

Rat                           PGGGSVGMNSRKPDLRVVIPPSSKGMMPP--------LNAQ

Pig                           PGGGNLGMNSRKPDLRVVIPPSSKGMMPPLSEEEELELNTQ

Bovine                        PGGGSLGMNSRKPDLRVVIPPSSKGMMPP--------LNTQ

Chicken                       PGGGGLGMNNRKPDLRVVIPPSSKGMMPPLTEEDELELNTQ

Xenopus laevis                P-GGNLVMNSRKPDLRVVIPPSSKGMMPP--------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.

TypePositionsDescription
Chain 1 – 507 Myocyte-specific enhancer factor 2A
Region 266 – 283 Required for interaction with MAPKs
Mutagenesis 269 – 269 R -> A. Reduced p38 alpha- and beta2-mediated transcriptional activity; when associated with A-270.
Mutagenesis 270 – 270 K -> A. Reduced p38 alpha- and beta2-mediated transcriptional activity; when associated with A-269.
Mutagenesis 273 – 273 L -> A. Reduced p38 alpha- and beta2-mediated transcriptional activity; when associated with A-275.
Mutagenesis 275 – 275 V -> A. Reduced p38 alpha- and beta2-mediated transcriptional activity; when associated with A-273.
Mutagenesis 277 – 277 I -> A. Reduced p38 alpha- and beta2-mediated transcriptional activity; when associated with A-278.
Mutagenesis 278 – 278 P -> A. Reduced p38 alpha- and beta2-mediated transcriptional activity; when associated with A-277.


Literature citations

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.;
Circulation 117:185-191(2008)
Cited for: VARIANT LEU-279; LACK OF ASSOCIATION WITH MYOCARDIAL INFARCTION;

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.