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Table 2 Pathogenic mutations in TCS patients

From: Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome

PATIENT GEOGRAPHIC
ORIGIN
EXON cDNA MAJOR ISOFORM MUTATION PROTEIN MUTATION OCCURRENCE REFERENCE
TCS 1 caucasian 3 c.303_304delCA p.A101Afsx73 Sporadic In this study
TCS 2 caucasian 5 c.519delT p.T173Tfsx46 Sporadic In this study
TCS 3 caucasian 6 c.599delG p.S200Tfsx19 Familial In this study
TCS 4 caucasian 10 c.1639_1640delAG p.S547Qfsx2 Sporadic [13]
TCS 5 caucasian 10 c.1581delG p.G587Gfsx69 Sporadic In this study
TCS 6 caucasian 12 c.1973delC p.P658Lfsx53 Sporadic In this study
TCS 7 caucasian 13 c.2285_2286delCT p.S762fs Sporadic In this study
TCS 8 caucasian 15 c.2626_2627delGA p.D876Qfsx2 Sporadic In this study
TCS 9 caucasian 16 c.2831delA p.E944Efsx6 Sporadic In this study
TCS 10 caucasian 18 c.3118_3119dupG p.A1040Gfx47 Familial In this study
TCS 11 caucasian 20 c.3456_63delTTCTTCAG p.S1152Rfsx3 Sporadic In this study
TCS 12 caucasian 22 c.3700_3704delACTCT p.T1234Gfsx5 Sporadic In this study
TCS 13 caucasian 23B c.4331C > T p.Q1411X Sporadic In this study
TCS 14 caucasian 24 c.4359_4363delAAAAA p.E1453Efsx16 Sporadic [17]
TCS 15
TCS 16
TCS 17
caucasian 24 c.4366_4370delGAAAA p.E1456Efsx13 Familial
Sporadic
Sporadic
[17]
  1. The cDNA major isoform (including exon 6A, but without exon 16A) was deposited in GenBank with accession number AY460334[14].
  2. For the cDNA sequence, nucleotide +1 is the A of the ATG-translation initiation codon.