Table 2.
New changes in cDNA of TCO candidate genes on 19p13.2.
| PCR product | Change in cDNA | Type of aa change | Het frequency in TCO patients (%) | Het frequency in controls (%) |
|---|---|---|---|---|
| TIMM44x4 | G344A C925A | silent P308Q | 12.5 12.5 | na 0 0 na na |
| TIMM44x9 | G1274A G509A | silent silent | 12.5 12.5 | na na 22.5 3.0 |
| TIMM44x13 | T971C G868T | silent 3′UTR | 12.5 12.5 8.0 | na na na na |
| ELAVL1x3 | C591A G1111C | silent R219P | 42.9 13.0 25.0 14.2 | na na na na |
| ELAVL1x5 | Δ(CTTCCACTTCA | 3′UTR 5′UTR | 12.5 12.5 | na na na na |
| CCL25x5 | AC) bp1267-1280 | T289M | 37.5 50.0 37.5 50.0 | na na 7.3 na na |
| LASS1x3 | C182T A866T | K1266N | 37.5 37.5 | |
| MARCH2x5 | A3798C C4996T | silent Y1897D | 37.5 12.5 37.5 37.5 | |
| MARCH2x5 | T5692G G9569C | S3189T | 12.5 50.0 | |
| GRIM19x1 | A21814G T21858A | I7271V silent | 12.5 | |
| EDG5x2 | G26790A C25572T | silent silent | ||
| MUC16x1 | T25638G A27791C | D8546E | ||
| MUC16x1 | C31905T G31721A | N9263T | ||
| MUC16x1 | G36955A G39400A | silent R10573H | ||
| MUC16x2 | C41705T | E12318L | ||
| MUC16x3 | V13133M | |||
| MUC163x | P13901L | |||
| MUC16x3 | ||||
| MUC16x3 | ||||
| MUC16x3 | ||||
| MUC16x3 | ||||
| MUC16x5 | ||||
| MUC16x5 | ||||
| MUC16x15 | ||||
| MUC16x39 | ||||
| MUC16x63 |
na= not available. The changes cosegregating are reported. Only for TIMM44 missense change, the variant was not found in a large group of controls. The other genes screened so far but with no new changes identified are NDUFA7, PPAN, FBLX12, ICAM1, ICAM4, LASS1, LASS4, SMARCA4, DNM2, and ANGPL4; RAB11B; ADAMTS10; PIN1; UBL5; and KEAP1.