Table 2.
Substitutions according to gene (gene symbol; location) | RS no. |
---|---|
Nonhomologous end joining/V(D)J | |
DNA ligase IV (LIG4; 13q33) | |
T91 | rs1805388 |
Recombination-activating gene 1* (RAG1; 11p13) | |
K820R | rs2227973 |
X-ray repair cross-complementing 4 (XRCC4; 5q13) | |
N298S | rs1805377 |
S307 | rs1056503 |
A247S | rs3734091 |
Homologous recombination repair | |
Breast cancer 2, early onset (BRCA2; 13q12.3) | |
N372H | rs144848 |
K1132 | rs1801406 |
S2414 | rs1799955 |
Ex27-336A>C | rs15869 |
N289H | rs766173 |
N991D | rs1799944 |
Nijmegen breakage syndrome (NBS1; 8q21) | |
E185Q | rs1805794 |
Tumor protein p53 (TP53; 17p13.1) | |
P72R | rs1042522 |
Werner syndrome (WRN; 8p12) | |
V114I | rs4987236 |
M387I | rs1800391 |
L1074F | rs2725362 |
C1367R | rs1346044 |
X-ray repair cross-complementing 2 (XRCC2; 7q36.1) | |
R188H | rs3218536 |
X-ray repair cross-complementing 3 (XRCC3; 14q32.3) | |
T241M | rs861539 |
Nucleotide excision repair | |
Excision repair cross-complementing 1 (ERCC1; 19q13.2) | |
IVS5 + 33A>C | rs3212961 |
Excision repair cross-complementing 2 (ERCC2; 19q13.3) | |
D312N | rs1799793 |
Excision repair cross-complementing 2 (ERCC2; 19q13.3) | |
K751Q | rs13181 |
Excision repair cross-complementing 4 (ERCC4; 16p13.3) | |
P379S | rs1799802 |
Excision repair cross-complementing 5 (ERCC5; 13q22) | |
D1104H | rs17655 |
RAD23 homolog B (RAD23B; 9q31.2) | |
A249V | rs1805329 |
Xeroderma pigmentosum C (XPC; 3p25) | |
K939Q | rs2228001 |
Base excision repair | |
Apurinic/apyrimidinic endonuclease (APEX1; 14q11.2) | |
D148E | rs3136820 |
Poly[ADP-ribose] polymerase (PARP; 1q41) | |
V762A | rs1136410 |
X-ray repair cross-complementing 1 (XRCC1; 19q13.2) | |
Q399R | rs25487 |
Direct damage reversal | |
O-6-methylguanine DNA methyltransferase (MGMT; 10q26) | |
I143V | rs2308321 |
K178R | rs2308327 |
L84F | rs12917 |
RAG1 is not considered a DNA repair gene but, rather, participates in the V(D)J recombination process with DNA repair genes active in NHEJ.