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Table 1 nsSNPs that abolish or create putative phosphorylated residues in DNA repair and cell cycle proteins. Only the NetPhos [22] predictions that remove or create a site at either the SNP location or at kinase recognition motifs are shown. The nsSNPs that create or abolish putative phosphorylation sites at the nsSNP position are shown in bold. Under the wild type and variant columns are the NetPhos outputs with the location of the amino acid, the phosphorylation motif (the putative phosphorylated residue is underlined), the score, and the residue being phosphorylated. 1 and 2 under the frequency column represents the nsSNP minor allele frequencies <5% and ≥5%, respectively [20-21]. Please note that the BRCA1 and NFKB1 proteins were initially identified as cell cycle protein interacting proteins [21]. However, in this manuscript, we classified the BRCA1 as a DNA repair and the NFKB1 as a cell cycle protein. §The putative phosphorylation sites that are also predicted in mouse proteins.

From: Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs

Pathway

Gene

Accession #

SNP ID

nsSNP

Freq.

Wild Type

Variant

DNA repair

BRCA1

NM_007294.1

SNP000007492

rs799917

P871L

2

868 SKRQSFAPF 0.599 *S*

-

 

BRCA1

NM_007294.1

rs4986852

S1040N

1

§1041 KEASSSNIN 0.557 *S*

-

 

ERCC2

NM_000400.1

SNP000000054

rs1799792

H201Y

1

-

201 YSIL Y ANVV 0.745 *Y*

 

ERCC4

NM_005236.1

SNP000000067

P379S

1 and 2

-

379 LESN S KWEA 0.507 *S*

 

ERCC5

NM_000123.1

SNP001026027

rs2307491

S311C

1

a) 311 SLPS S SKMH 0.990 *S*

b) §310 ESLPSSSKM 0.645 *S*

-

 

IGHMBP2

NM_002180.1

SNP000012785

rs622082

T671A

2

§672 GPATSTRTG 0.634 *S*

-

 

LIG4

NM_002312.2

rs3093765

P231S

1

-

231 QLHD S SVGL 0.562 *S*

 

OGG1

NM_002542.4

SNP000064679

S326C

2

326 DLRQ S RHAQ 0.990 *S*

-

 

WRN

NM_000553.2

SNP001026663

rs3087414

S1079L

1

a) §1083 SKTVSSGTK 0.790 *S*

b) 1084 KTVSSGTKE 0.829 *S*

-

 

XRCC1

NM_006297.1

SNP000064196

rs25491

P309S

1

-

309 EPRR S RAGP 0.996 *S*

 

XRCC3

NM_005432.2

SNP000000060

T241M

2

§ 241 SLGA T LREL 0.849 *T*

-

Cell Cycle

CCND3

NM_001760.2

rs1051130

S259A

2

259 LREA S QTSS 0.982 *S*

-

 

CCNI

NM_006835.2

rs4252903

V207I

1

§208 LAMVSLEME 0.664 *S*

-

 

CDKN1A

NM_000389.2

SNP000003435

rs1801270

GAI870831

GAI1503061

S31R

2

31 SEQL S RDCD 0.924 *S*

-

 

NFKB1

NM_003998.2

rs4648099

H712Q

1

716 HVDSTTYDG 0.595 *T*

-