Table 1.
Information on cell line numbers, genes, transcript numbers, pathogenic variants and expected effects on the affected protein in patient cell lines
| Gene | Cell line | Pathogenic variant | Expected effect on protein | Cellular process |
|---|---|---|---|---|
| ACTA2 (NM_001613.3) | ACTA2 #1 | c.445C > T, p.R149C | Missense mutation, presumably affecting the fiber formation due to the disappearance of a positive amino acid load | Cytoskeleton contractility |
| MYH11 (NM_002474.3) | MYH11 #1 | c.3879 + 2dup, p.? | Splice site mutation, premature stop codon. Possibly leading to happloinsufficiency and absence of functional protein | Cytoskeleton contractility |
| SMAD3 (NM_005902.3) | SMAD3 #1 | c.859C > T, p.R287W | Missense mutation, potential loss of H-bridges at interacting site that leads to reduced SMAD3/SMAD4 complex stability | TGFβ signaling |
| FBN1 (NM_000138.4) | FBN1 #1 HI | c.2369insC, p.C790Sfs*12 | Frameshift, premature stop codon resulting in haploinsufficiency | Extracellular matrix organization |
| FBN1 #2 HI | c.2851insG, p.L951Afs*2 | Frameshift, premature stop codon resulting in haploinsufficiency | Extracellular matrix organization | |
| FBN1 #3 DN | c.2132G > A, p.C711Y | Missense mutation in the TGFβ-binding protein-like domain that could affect binding to fibrillin-1 and results in a dominant negative effect on the protein | Extracellular matrix organization |