Table 5.

Most Common Mutations: Acute Porphyrias – Mount Sinai Experience Since 1/1/07

AIP / HMBS				HCP / CPOX				VP / PPOX
Mutation		% of 315		Mutation		% of 29		Mutation		% of 54
cDNA	Amino Acid	Unrelated Probands		cDNA	Amino Acid	Unrelated Probands		cDNA	Amino Acid	Unrelated Probands
c.517C>T	p.R173W	13.0		c.601G>A	p.E201K	13.8		c.1303C>T	p.Q435X	5.6
c.500G>A	p.R167Q	7.6		c.565G>A	p.G189S	6.9		c.503G>A	p.R168H	5.6
c.848G>A	p.W283X	6.3		c.626T>A	p.V209D	6.9		c.503G>T	p.R168L	5.6
c.331G>A	p.G111R	3.2		c.395C>T	p.A132V	3.4		c.565C>T	p.Q189X	5.6
c.673C>T	p.R225X	2.9		c.520G>A	p.A174T	3.4		c.217C>G	p.L73V	3.7
c.499C>T	p.R167W	2.5		c.980A>G	p.H327R	3.4		c.454C>T	p.R152C	3.7
c.973C>T	p.R325X	2.2						c.40G>C	p.G14R	1.9
c.76C>T	p.R26C	1.9
c.992C>T	p.A331V	1.9
c.1084delT	c.1084delT	1.9
TOTAL:		45.5%				52%				34%