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Table 1 Overview of currently known TGFB2 mutations

From: Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation

Exon ac-notation bp-notation Domain Reference
1 c.294_308del p.Ala100_Tyr104del LAP [16]
1 c.297C > A p.Tyr99* LAP [16]
1 c.304G > T p.Glu102* LAP [17]
3 c.475C > T p.Arg159* LAP [18]
5 c.771C > A p.Cys257* LAP [17]
6 c.839-1G > A p.Gly280Aspfs*41 LAP Current study
6 c.957_972dup p.Asn325* LAP [17]
6 c.979C > T p.Arg327Trp LAP [16],[18]
6 c.980G > A p.Arg327Gln LAP [18]
6 c.988C > T p.Arg330Cys LAP [16]
7 c.1097C > A p.Pro366His Cyt [16]
7 c.1106_1110del p.Tyr369Cysfs*26 Cyt [16],[17]
7 c.1125del p.Gly376Glufs*17 Cyt [18]
7 c.1165dupA p.Ser389Lysfs*8 Cyt [19]
Entire gene Chr1.hg19: g.(215,588,712)_(222,145,072)del [16]
Entire gene Chr1.hg19: g.(216,672,181)_(220,202,575)del [16]
  1. aDNA mutation numbering is based on the cDNA sequence. For cDNA numbering, +1 corresponds to the A of the ATG translation initiation codon in the reference sequence. The reference sequence is based on the GenBank Accession number: TGFB2 NM_001135599.2. bFor protein numbering, +1 corresponds to the first translated amino acid. The reference sequence is based on the GenBank Accession number: TGFB2 NP_001129071.1. Abbreviations: LAP Latency-associated peptide domain, Cyt TGF-β2 cytokine domain.