Table 3 Polymorphisms in TCS patients
From: Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome
PATIENT | LOCATION | cDNA MAJOR ISOFORM POLYMORPHISM | AMINOACID CHANGE | ALLELE FREQUENCIES IN CONTROLS | REFERENCE |
|---|---|---|---|---|---|
TCS 8, TCS 18 | 5'UTR | 5'UTR-41G > T | None | 0.82 | In this study |
TCS 18 | Intron 6 | c..639 +32C > G | None | 0.02 | [11] |
TCS 19 | Exon 7 | c.1347T > C | p.P439L | 0.01 | [13] |
TCS 6, TCS 11 | Exon 10 | c.1578 T > C | p.P526P | 0.77 | [13] |
TCS 1, TCS 6, TCS 17, TCS 19 | Exon 11 | c.1761G > T | p.G587G | 0.10 | [11] |
TCS 17, TCS 19, TCS 20 | Exon 11 | c.1842A > G | p.S614S | 0.52 | [13] |
TCS 10 | Exon 12 | 1837G > C | p.A588P | 0.31 | In this study |
TCS 10, TCS 10.1, TCS 10.3, TCS 11, TCS 20 | Exon 12 | c.1993C > G | p.A665P | 0.21 | International HapMap project |
TCS10, TCS 11, TCS 20 | Intron 15 | c.2659-28delTCTC | None | 0.15 | In this study |
TCS 13 | Exon16 | c.2660 C > T | p.A887V | 0.82 | [13] |
TCS 19 | Exon 16 | c.2765 C > T | p.S992L | 0.01 | [13] |
TCS 21 | Intron 16 | c.2859-30G > A | None | 0.0 | In this study |
TCS 11, TCS 20 | Intron 16A | c.2859+3444C > T | None | 0.05 | In this study |
TCS 7, Mother carrier | Exon 17 | c.2924C > T | p.P975L | 0.0 | In this study |
TCS 22 | Intron 19 | c.3197+66C > T | None | 1.0 | International HapMap project |
TCS 13, TCS 19 | Intron 20 | c.3517-34G > A | None | 0.1 | In this study |
TCS 13, TCS 14, TCS19, TCS 23, TCS 24, TCS 25 | Exon 21 | c.3527C > G | p.P1176R | 0.16 | [11] |
TCS 1, TCS 13, TCS 19 | Intron 21 | c.3370-3C > T | None | 1.0 | [8] |
TCS 6, TCS 22, TCS 26, TCS 27, TCS 28,TCS 29, TCS 30, TCS 31, TCS 32 | Exon 23B | c.4169C > T | p.A1390V | 0.24 | [11] |
TCS 23, TCS 32 | Exon 23B | C.4292G > C | p.G1431A | 0.03 | [11] |