Table 2 Variants reported in PDGFRB and associated with PFBC
Nucleotide substitution (Ref.) | Amino acid substitution | Exon | Domain affected | Global allele frequency (gnomAD) | In silico analysis |
|---|---|---|---|---|---|
c.3G>A [30] | p.(Met1Ile) | 2 | Initiation codon | No data | SIFT: damaging MutationTaster: polymorphism PolyPhen-2: benign |
c.676C>T [31] | p.(Arg226Cys) | 5 | Extracellular, Ig-like C2-type 3 | No data | SIFT: deleterious MutationTaster: disease causing PolyPhen-2: probably damaging |
c.1126C>T [32] | p.(Arg376Trp) | 7 | Extracellular, Ig-like C2-type 4 | 0.00000829/2 | SIFT: deleterious MutationTaster: disease causing PolyPhen2: probably damaging |
c.1787C>T [31] | p.(Pro596Leu) | 12 | Tyrosine kinase domain | 0.00080/2 | SIFT: deleterious MutationTaster: disease causing PolyPhen-2: probably damaging |
c.1834G>A (*) | p.(Gly612Arg) | 13 | Tyrosine kinase domain | No Data | SIFT: deleterious MutationTaster: disease causing PolyPhen-2: probably damaging |
c.1973 T>C [27] | p.(Leu658Pro) | 14 | Tyrosine kinase domain | No data | SIFT: deleterious MutationTaster: disease causing PolyPhen-2: probably damaging |
c.2083C>T [22] | p.(Arg695Cys) | 15 | Tyrosine kinase domain | 0.000110/27 | SIFT: deleterious MutationTaster: disease causing PolyPhen-2: probably damaging |
c.2209G>A [30] | p.(Asp737Asn) | 16 | Tyrosine kinase domain | 0.00000406/1 | SIFT: Tolerated MutationTaster: disease causing PolyPhen-2: probably damaging |
c.2531A>G [31] | p.(Asp844Gly) | 18 | Tyrosine kinase domain | No data | SIFT: deleterious MutationTaster: disease causing PolyPhen-2: probably damaging |
c.2959C>T [27] | p.(Arg987Trp) | 22 | – | 0.0000285/7 | SIFT: deleterious MutationTaster: disease causing PolyPhen-2: probably damaging |
c.3212A>T [5] | p.(Glu1071Val) | 23 | – | No data | SIFT: Tolerated MutationTaster: disease causing PolyPhen-2: possibly damaging |