[GET-dev] Also of interest

[Kimberly Robasky]

Here's a comprehensive list of 124 OMIM variants that break known,
experimentally validated phosphorylation sites, with variants falling
in highest scoring scan-x motifs listed first:

RAF1,00257,Ser-Leu
BUB1B,00550,Arg-Gln
DSP,02834,Arg-His
ADD1,00460,Gly-Trp
ELAC2,00217,Ser-Leu
UPF3B,00160,Tyr-Asp
GJA1,00362,Arg-Gln
FLCN,00079,Ser-Trp
ABL1,00253,Tyr-His
LMNA,00399,Arg-Cys
SLC4A1,00040,Glu-Lys
PRKAR1A,00074,Arg-Cys
KCNQ1,00583,Arg-Cys
CTNNB1,00041,Thr-Ala
CTNNB1,00037,Ser-Phe
CTNNB1,00041,Thr-Ile
CTNNB1,00045,Ser-Phe
CTNNB1,00037,Ser-Cys
CTNNB1,00045,Ser-Pro
CDH1,00838,Ser-Gly
SMN1,00030,Asp-Asn
CDKL5,00175,Arg-Ser
CD44,00046,Arg-Gly
PTPN11,00063,Tyr-Cys
PTPN11,00061,Asp-Gly
PTPN11,00062,Tyr-Asp
WT1,00396,Asp-Gly
WT1,00396,Asp-Asn
KCNJ11,00023,Glu-Lys
PTEN,00170,Ser-Arg
CREBBP,01378,Arg-Pro
L1CAM,01194,Ser-Leu
LMNA,00298,Arg-Cys
CDK4,00024,Arg-Cys
CDK4,00024,Arg-His
RPS6KA3,00227,Ser-Ala
HSPB1,00136,Arg-Trp
RAF1,00261,Pro-Ser
SCN4A,01313,Thr-Met
ATG16L1,00300,Thr-Ala
APC,01395,Ser-Cys
NFKBIA,00032,Ser-Ile
KIT,00820,Asp-Gly
ZAP70,00518,Ser-Arg
RUNX2,00200,Thr-Ala
RUNX2,00191,Ser-Asn
CTNNB1,00032,Asp-Tyr
CTNNB1,00032,Asp-Gly
CTNNB1,00033,Ser-Tyr
CTNNB1,00033,Ser-Phe
FLT3,00835,Asp-Asn
FLT3,00835,Asp-Glu
FLT3,00835,Asp-Val
FLT3,00835,Asp-His
FLT3,00835,Asp-Tyr
RAF1,00491,Thr-Arg
GLI3,00625,Arg-Trp
TGFBR2,00427,Pro-Leu
TPM1,00054,Glu-Lys
NME1,00120,Ser-Gly
MYC,00059,Pro-Ala
CPS1,00544,Thr-Met
PTPN11,00279,Tyr-Cys
ANTXR2,00381,Tyr-Cys
TFAP2A,00255,Arg-Gly
DSP,00299,Ser-Arg
PER2,00662,Ser-Gly
PDGFRA,00846,Asp-Tyr
KRT12,00135,Arg-Ile
KRT12,00135,Arg-Gly
KRT12,00135,Arg-Thr
CHEK2,00428,Ser-Phe
SMN1,00044,Asp-Val
WNK4,01185,Arg-Cys
APRT,00065,Asp-Val
RPS6KA3,00383,Arg-Trp
HCN4,00553,Asp-Asn
RB1,00567,Ser-Leu
TRPM7,01482,Thr-Ile
SHROOM4,01089,Ser-Leu
TPP1,00206,Arg-Cys
LMNA,00453,Arg-Trp
AVPR2,00113,Arg-Trp
MC1R,00160,Arg-Trp
MC1R,00151,Arg-Cys
MC1R,00157,Thr-Ile
MRE11A,00481,Thr-Lys
SSTR5,00240,Arg-Trp
RPE65,00091,Arg-Trp
BEST1,00141,Arg-His
CYP17A1,00329,Tyr-Asp
TIRAP,00180,Ser-Leu
MEF2A,00283,Gly-Asp
CASQ2,00307,Asp-His
HSPB1,00135,Ser-Phe
NCF1,00042,Arg-Gln
CRYAA,00049,Arg-Cys
PGAM2,00089,Glu-Ala
SLC4A1,00056,Lys-Glu
ABL1,00315,Thr-Ile
STK11,00194,Asp-Tyr
TEK,00897,Tyr-Ser
KRT14,00125,Arg-His
KRT14,00125,Arg-Cys
KCNQ2,00214,Arg-Trp
TGFBR2,00336,Tyr-Asn
EDNRB,00305,Ser-Asn
KRT17,00094,Arg-His
KRT17,00094,Arg-Cys
KRT17,00094,Arg-Pro
FGFR2,00341,Thr-Pro
FGFR2,00347,Ser-Cys
FGFR2,00340,Tyr-His
ACTB,00183,Arg-Trp
LBR,00119,Pro-Leu
BMP15,00235,Tyr-Cys
KRT17,00098,Tyr-Asp
GATA1,00218,Asp-Tyr
GATA1,00216,Arg-Gln
GATA1,00218,Asp-Gly
ACTG1,00089,Thr-Ile
TGFBR1,00200,Thr-Ile
FGFR2,00354,Ser-Cys
FGFR2,00351,Ser-Cys