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 |