Table 2 FAM111B gene mutations, genotyping restriction enzymes and DNA fragment lengths
No | FAM111B gene mutation | Type of mutation | Restriction enzymes | DNA fragment lengths (bp) |
|---|---|---|---|---|
1 | c.1247T>C (p. Phe416Ser) (12) | Missense | AvaI/BsoBI/Eco88I/XmnI | T/T = 1085 bp (i.e., Noncutter) T/C = 1085, 958, and 127 bp C/C = 958 and 127 bp |
2 | c.1261_1263delAAG (p. Lys421del) (5) | Deletion | Hin4I | A/A = 397, 243, 215 and 3 × 32# bp A/G = 560, 390, 243, 215 and 3 × 32# bp G/G = 560, 243, 275 and 2 × 32# bp |
3 | c.1289A>C (p. Gln430Pro) (3, 4) | Missense | TasI/MluCI | A/A = 251, 194, 161†, 146† and 79 bp A/C = 251, 194, 161†, 146†, 120† and 79 bp C/C = 251, 194, 161† and 146† bp |
4 | c.1462delT (p. Cys488Valfs*21) (16) | Frameshift | Hpy991/HpyCH4III | T/T = 1085 bp (i.e., Noncutter) delT/T = 1085, 739, and 345 bp C/C = 739 and 345 bp |
5 | c.1861T>G (p. Tyr621Asp) (2, 7) | Missense | BstZ17I/Bst 11071/BssNAI | T/T = 740 and 345 bp T/G = 1085, 740 and 345 bp G/G = 1085 bp (i.e., Noncutter) |
6 | c.1873A>C (p. Thr625Pro) (13) | Missense | Hpy8I | A/A = 395, 345, 284, 50 and 11* bp A/C = 395, 345, 295†, 284†, 50 and 11* bp A/A = 395, 345, 295, 50 bp |
7 | c.1874C>A (p. Thr625Asn) (4) | Missense | MseI/TruI/Tru9I/SaqAI | C/C = 393 and 238 bp# C/A = 393, 238, 145 bp# A/A = 393 and 145 bp# |
8 | c.1879A>G (p. Arg627Gly) (7) | Missense | StyI/ BsaJI | A/A = 592, 480 and 13* bp A/G = 592, 480, 317, 275 and 13* bp G/G = 480, 317, 275 and 13* bp |
9 | c.1883G>A (p. Ser628Asn) (7) (4, 10) | Missense | ApoI/XapI | G/G = 715, 161, 120 and 89 bp G/A = 715, 552, 163$, 161$, 120 and 89 bp A/A = 552, 163$, 161$, 120 and 89 bp |
10 | c1881 C>T (p. Arg672Ser) (14) This reported mutation was unverifiable | Missense | – | – |
11 | c.1884T>A (p. Ser628Arg) (1) | Missense | BsaBI/BseJI | T/T = 1085 bp (i.e., Noncutter) T/A = 1085, 767 and 318 bp A/A = 767 and 318 bp |