Table 1.

The table lists most VCP mutations. It reports the localization and the amino acid residue substitution in the protein encoded by each VCP mutation, the mutation at nucleotide level and the associated diseases (IBM, inclusion body myopathy; PDB, Paget’s disease of bone; FTD, frontotemporal dementia; PD, Parkinson disease; ALS, amyotrophic lateral sclerosis; CMT2Y, Charcot-Marie-Tooth disease type 2).

Domain	Protein Position	Amino Acid Residue Substitutions	Nucleotide Mutation	Associated Disease	References
N domain	I27	p. I27V	c.79A>G	IBM, FTD, PDB	[49,50,51]
	R93	p. R93C	c.277C>T	IBM, PDB, FTD	[52,53]
		p. R93H	278G>A	HSP	[54]
	R95	p. R95C	283C>T	IBM, ALS	[55]
		p. R95H	284G>A	AD	[33]
		p. R95G	283C>G	IBM, PDB, FTD, ALS	[35,56]
	G97	p. G97E	290G>A	IBM, PDB, FTD	[57,58]
	I114	p. I114V	340A>G	ALS	[59]
	I126	p. I126F	376A>T	IBM, PDB, FTD	[60]
	T127	p. T127A	379A>G	FTD, AD	[61]
	P137	p. P137L	410C>T	IBM, PDB, FTD	[62,63]
	I151	p. I151V	451A>G	IBM, ALS	[64,65]
	R155	p. R155S	463C>A	IBM, PDB, FTD	[62]
		p. R155L	464G>T	IBM, PDB, FTD	[66]
		p. R155H	464G>A	IBM, PDB, FTD, ALS	[35,53,62,67,68,69]
		p. R155C	463C>T	IBM, PDB, FTD, ALS	[35,52,69,70,71]
		p. R155P	464G>C	IBM, PDB, FTD	[35]
	G156	p. G156C	466G>C	ALS	[72]
		p. G156S	466G>A	IBM, PDB, FTD	[73]
	G157	p. G157R	469G>C/469G>A	IBM, PDB, FTD	[62,74]
	M158	p. M158V	472A>G	PDB, ALS	[75]
	R159	p. R159G	475C>G	ALS, FTD	[32]
		p. R159C	475C>T	IBM, FTD, PD, ALS	[34,36,69,76]
		p. R159H	476G>A	IBM, PDB, FTD, ALS	[59,62,77,78]
	E185	p. E185K	553C>T	CMT2Y	[31]
N-D1 linker	R191	p. R191G	571C>G	BM, ALS	[69]
		p. R191Q	572G>A	IBM, PDB, FTD, ALS	[32,35,56,62,69]
	L198	p. L198W	593T>G	IBM, PDB, FTD	[66,79]
	G202	p. G202W	604G>T	IBM, FTD	[80]
	I206	p. I206F	616A>T	IBM, PDB, FTD	[81]
D1 domain	A232	p. A232E	695C>A	IBM, PDB	[35,56]
	T262	p. T262A	784A>G	IBM, PDB, FTD	[82]
	K386	p. K386E	1158T>C	IBM	[83]
	N387	p. N387H	1159A>C	IBM, FTD	[79]
		p. N387S	1160A>G	IBM, PDB, FTD	[84]
		p. N387T	1160A>C	ALS	[39]
	D395	p. D395A	1184A>C	FTD	[85]
	N401	p. N401S	1202A>G	FTD, ALS	[61]
	A439	p. A439S	1315G>T	IBM, PDB	[62]
		p. A439P	1315G>C	IBM, PDB, FTD	[86,87]
		p. A439G	1316C>G	IBM, FTD	[80]
D2 domain	R487	p. R487H	1460G>A	FTD, ALS	[88]
	D592	p. D592N	1774G>A	ALS	[32]
	R662	p. R662C	1984C>T	ALS	[39]
	N750	p. N750S	2249A>G	ALS	[40]