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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]
  1. The URL for International HapMap project is http://hapmap.ncbi.nlm.nih.gov/