[GET-dev] anecdotally interesting, was: Also of interest

[Kimberly Robasky]

ADD1,00460,Gly-Trp:

breaks an experimentally-validated phosphorylation site
is described in OMIM as:Hypertension, salt-sensitive essential,
susceptibility to

The following PGPs have this high-frequency (25%), mostly innocuous variant:

Seong-Jin Kim
hom T @ chr4:2876505
snp-2
hom T @ chr4:2876505
NA07022
het T @ chr4:2876505
Stanley Lapidus (alternate)
het T @ chr4:2876505
NA12878
het T @ chr4:2876505
NA18517
het T @ chr4:2876505
NA18555
het T @ chr4:2876505
NA18956
hom T @ chr4:2876505
D#kgao
het T @ chr4:2876505

On Fri, May 21, 2010 at 11:17 AM, Kimberly Robasky <krobasky at gmail.com> wrote:
> 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
>