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

Table 2 Amino-acid substitutions in immunoglobulin-like domains

Substitution	Domain coordinates^a	Ig^b	C_s^c	PDB^d	Identity^e (%)	RSA^f (%)	SDM^g
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

The table shows data for filamin C (FLNC)
^aSequence positions (start and end) of the domain containing the substitution
^bIg domain number in a protein
^cConservation score of a mutated position in the alignment
^dPDB ID of the template used for homology modeling of domain 3D structure
^ePercent identity between the query and the PDB sequence
^fRelative solvent-accessible area of the mutated residue, calculated by SDM
^gTool to predict changes in protein stability upon point mutations; ‘S’: mutation increases protein stability; ‘D’: mutation decreases protein stability

ISSN: 1750-1172