Table 2.
Gene name (Swiss-Prot ID) | Variation site (Swiss-Prot variant ID) | Removed phosphorylation site (related kinases) | Local peptide sequencea | Effect | Reference(s) for variation | Reference(s) for phosphorylation site |
---|---|---|---|---|---|---|
DUT (P33316) | P100S (VAR_022314) | S99b (CDC2) | GPETPAI S PSKRARP | Polymorphism | 17081983 8631817 | |
GJA1 (P17302) | P283L (VAR_014101) | S282b (ERK1, ERK2 and MAPK7) | TAPLSPM S PPGYKLV | Polymorphism (rs2228974) | 8631994 9535905 | |
PPARG (P37231) | P113Q (VAR_010724) | S112c (ERK2, JNK1 and MAPK8) | AIKVEPA S PPYYSEK | Obesity and polymorphism (rs1800571) | 9753710 | 9030579 |
RXRA (P19793) | P261L (VAR_014620) | S260b (ERK2 and MAPK7) | NMGLNPS S PNDPVTN | Polymorphism (rs2234960) | 12048211 |
aThe variation sites are underlined and are marked with the bold style.
bThe removals of the phosphorylation sites by the variation have not been confirmed by experiments. However, the removals of the phosphorylation sites are highly possible because the nearby phosphorylation sites are proved to be recognized by the CMGC group.
cThe removal of the phosphorylation site by the variation has been confirmed by a experiment (12).
If the variations substitute the proline residues at position +1 relative to the phosphorylation sites into other amino acids, the nearby phosphorylation sites recognized by the CMGC kinase group can be eliminated or the efficiency of phosphorylation in that site is significantly decreased.
Protein names which are abbreviated by their gene names: deoxyuridine 5′-triphosphate nucleotidohydrolase, mitochondrial (precursor), DUT; gap junction α-1 protein, GJA1; peroxisome proliferator-activated receptor γ, PPARG; retinoic acid receptor RXR-α, RXRA.