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The below table contains a list of reported 'phosphovariants' in the literature. We define a phosphovariant as an amino acid variant that causes a change in phosphorylation status either of the mutant residue, or an adjacent residue. The change in status can either be a 'loss' (ordinary phosphorylation is lost) or 'gain' (a phosphorylation site is gained). For the variants in the table, the referenced studies have shown through in vitro or in vivo studies that the variant causes loss or gain of a specific phosphorylation site.

Gene Variant Phos. site Effect Reference
Cyclin D1 T286R T286 loss Benzeno et al. (2006) Oncogene, 25(47), 6291–630
hOG1 S326C S326 loss Luna et al. (2005) Nucleic Acids Res., 33(6), 1813–1824
TP53 P47S S46 loss Li et al. (2005) J. Biol. Chem., 280(25), 24245–24251
TP53 R213Q S215 loss Wagih et al. (2015) Nat. Meth., 12(6), 531–533
TP53 R282Q T284 loss Wagih et al. (2015) Nat. Meth., 12(6), 531–533
BDNF V66M T62 loss Deng et al. (2013) J. Bone Miner. Res., 28(12), 2498–2507
CDKN1A D149G S146 loss Oh et al. (2007) Apoptosis, 12(7), 1339–1347
hERG1 K897T T897 gain Gentile et al. (2008) Proc. Natl. Acad. Sci. U. S. A., 105(38), 14704–14708
PPARG P113Q S112 loss Ristow et al. (1998) N. Engl. J. Med., 339(14), 953–959
PTP-1B P387L S386 loss Echwald et al. (2002) Diabetes, 51(1), 1–6
UBE3A T485A T485 loss Yi et al. (2015) Cell, 162(4), 795 – 807
PER2 S662G S662 loss Toh et al. (2001) Science, 291(5506), 1040–1043
MeCP2 R306C T308 loss Ebert et al. (2013) Nature, 499(7458), 341–345
NKX3-1 R52C S48 loss Gelmann et al. (2002) Cancer Res., 62(9),2654–2659
PLN R14C S16 loss Ceholski et al. (2012) J. Biol. Chem., 287(32), 26596–26605
ABCB4 T34M T34 loss Gautherot et al. (2014) Hepatology, 60(2), 610–621
MAF P59H T58 loss Niceta et al. (2015) Am. J. Hum. Genet., 96(5), 816 – 825
GLUT1 R223W S226 loss Lee et al. (2015) Mol. Cell, 58(5), 845 – 853
AR R405S S405 gain Lagarde et al. (2012) J. Biol. Chem., 287(14), 10905–10915
Gab1 T387N S387 loss Ortiz-Padilla et al. (2013) Oncogene, 32(21), 2696–2702
STAT1 L706S Y701 loss Dupuis et al. (2001) Science, 293(5528), 300–303
CLIP1 E1012K S1009 loss Wagih et al. (2015) Nat. Meth., 12(6), 531–533
CTNNB1 S37C S33 loss Wagih et al. (2015) Nat. Meth., 12(6), 531–533
CTNNB1 G34R S47 gain Wagih et al. (2015) Nat. Meth., 12(6), 531–533
Permalink wiki/pages/h1g8r8i5/phosphovariants.html.txt · Last modified: 2017/06/06 09:39 by mikael

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