Table 1 Changes in cDNA of TCO candidate genes on 19p13.2
PCR product | Change in cDNA | Type of aa change | dbSNP | Het frequency in TCO patients (%) | Het frequency in controls (%) |
|---|---|---|---|---|---|
TIMM44x4 | G344A | Silent | – | 12.5 | NA |
TIMM44 x9 | C925A | P308Q | – | 12.5 | 0 |
TIMM44 x13 | G1274A | Silent | – | 12.5 | 0 |
TIMM44x13 | C1307T | Silent | rs1157923 | 12.5 | NA |
ELAVL1x3 | G509A | Silent | – | 12.5 | NA |
ELAVL1x5 | T971C | Silent | – | 12.5 | NA |
ELAVL1x5 | A4024G | 3′UTR | rs12983784 | 37.5 | NA |
CCL25x3 | A303G | H101R | rs2032887 | 62.5 | NA |
CCL25x3 | C312T | T104M | rs2113089 | 12.5 | NA |
CCL25x4 | G379A | Silent | rs2303164 | 37.5 | 29.7 |
CCL25x5 | G675A | 3′UTR | rs2287936 | 25.0 | NA |
CCL25x5 | G868T | 3′UTR | – | 12.5 | NA |
ADAMTS10x4 | C646G | T134S | rs7255721 | 37.5 | NA |
ADAMTS10x26 | T3548G | H1101Q | rs7252299 | 90.0 | NA |
ANGPTL4x7 | G1362A | Silent | rs11672433 | 12.5 | NA |
LASS1x3 | C591A | Silent | – | 8.0 | NA |
LASS4x9 | C997T | Silent | rs1127912 | 12.5 | NA |
LASS4x9 | T1006C | Silent | rs36247 | 37.5 | NA |
LASS4x12 | T1339C | V353A | rs17160348 | 12.0 | NA |
LASS4x12 | G1376A | A366T | rs36259 | 88.0 | NA |
RAB11Bx5 | C558T | Silent | rs2230876 | 57.0 | NA |
MARCH2x1 | C20T | 5′UTR | rs12150986 | 42.0 | NA |
MARCH2x2 | A615G | T54A | rs11882865 | 67.0 | NA |
MARCH2x5 | G1111C | R219P | rs34099346 | 42.9 | 22.5 |
MARCH2x5 | del(CTTCCACTTCAAC) bp1267-1280 | 3′UTR | – | 13.0 | 3.0 |
GRIM19x1 | C182T | 5′UTR | – | 25.0 | NA |
EDG5x2 | A919C | Silent | rs2116942 | 14.2 | NA |
EDG5x2 | A866T | T289M | – | 14.2 | NA |
