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Table 2 Variants reported in PDGFRB and associated with PFBC

From: A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature

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
  1. *Detected in the present study