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Table 1 Variants identified and their respective allele frequencies in the TGFBR3 gene

From: TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome

Variants Location Amino Acid Allele freq. Patient (n = 49) Allele freq. Controls Ref. Acc. Nr. Allele freq.
c.44C > T Exon 2 S15F 0.11 0.12 (n = 54) rs1805110 0.325
c.55A > G Exon 2 T19A 0.02 0.00 (n = 54) Novel  
c.62-51 C > T Intron 2   0.01 0.03 (n = 52) rs17881268 0.03
c.216G > A Exon 3 A72A 0.32 0.35 (n = 52) rs2810904 0.407
c.247-40C > T Intron 3   0.18 0.13 (n = 45) rs11165441 0.13
c.886-1 0A > G Intron 7   0.01 0.00 (n = 40) Novel  
c.1128C > T Exon 9 I376I 0.01 0.00 (n = 55) rs11466595 0.015
c.1206G > A Exon 9 P402P 0.41 0.41 (n = 55) rs1805112 0.477
c.1341C > T Exon 9 S447S 0.02 0.02 (n = 55) rs2229500 ND
c.1566 + 55C > A Intron 10   0.26 0.28 (n = 58) rs7524066 0.19
c.2028C > T Exon 13 F676F 0.51 0.41 (n = 59) rs1805113 0.417
c.2247C > T Exon 14 T749T 0.07 0.07 (n = 50) rs284878 0.196
c.2293G > C Exon 15 G765R 0.02 0.00 (n = 50) rs17882828 0.034
c.2329C > T Exon 15 P777S 0.01 0.00 (n = 50) rs35352606 0.01
c.*19G > A 3'UTR   0.13 0.25 (n = 52) rs1131243 0.10
  1. The numbering is based on the mRNA sequence (TGFBR3; accession number NM_003243.4), where 1 corresponds to the nucleotide A of ATG, the translation initiation codon.
  2. ND; not yet determined.