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Table 2 Amino-acid substitutions in immunoglobulin-like domains

From: Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood

Substitution Domain coordinatesa Igb Csc PDBd Identitye (%) RSAf (%) SDMg
A1183L 1150–1244 10 10 4m9p 73.1 0.0 D
A1186V 1150–1244 10 10 4m9p 73.1 21.5 S
G2151S 2129–2306 20 10 2j3s 62.4 40.1 D
T2287P 2129–2306 20 8 2j3s 62.4 39.4 D
V2297M 2129–2306 20 10 2j3s 62.4 1.0 D
  1. The table shows data for filamin C (FLNC)
  2. aSequence positions (start and end) of the domain containing the substitution
  3. bIg domain number in a protein
  4. cConservation score of a mutated position in the alignment
  5. dPDB ID of the template used for homology modeling of domain 3D structure
  6. ePercent identity between the query and the PDB sequence
  7. fRelative solvent-accessible area of the mutated residue, calculated by SDM
  8. gTool to predict changes in protein stability upon point mutations; ‘S’: mutation increases protein stability; ‘D’: mutation decreases protein stability