Acute Intermittent Porphyria in Argentina: An Update

Table 1

All 106 families studied at biochemical and molecular level in the last 20 years at CIPYP.

Exon/intron	Mutation	Nucleotide change	Effect	Number of families; (affected individuals)	First reported
E3	p.R26C	c.76C>T	26 Arg > Cys	2 (9)	[26]
I3	IVS3ds+1G>A	c.87+1G>A	5′splice site mutation, exon 3 deletion	1 (4)	[27]
E4	p.Q34P	c.101A>C	34 Gln > Pro	6 (12)	[28]
	p.Q34X	c.100C>T	34 Gln > Stop	1 (2)	[26]
	p.T35M	c.104C>T	35 Thr > Met	1 (1)	[29]
	p.Y46X	c.138C>A	46 Tyr > Stop	1 (1)	[30]
E5	p.L68fsX69	c.202_203delCT	Out of frame deletion of 2 bp	1 (1)	[31]
E6	p.L81P	c.242T>C	81 Leu > Pro	1 (3)	[14]
E7	p.G111R	c.331G>A	111 Gly > Arg	59 (171)	[32]
	p.V103fsX120	c.298_304dupCCCACTG	Out of frame duplication of 7 bp with a stop codon at +17	1 (3)	This report
I7	IVS7+1G>C	c.344+1G>C	5′splice site mutation, deletion exon 7	1 (3)	[33]
E8	p.R116W	c.346C>T	116 Arg > Trp	1 (1)	[32]
I8	IVS8as-2A>G	c.423-2A>G	3′splice site mutation, deletion 15 bp	1 (5)	This report
	IVS8as-1G>T	c.423-1G>T	3′splice site mutation, deletion of 15 bp	2 (8)	[34]
E9	p.R149Q	c.446G>A	149 Arg > Gln	1 (1)	[35]
	p.A152del	c.453_455delAGC	Del Ala 152	1 (1)	[29]
E10	p.R173Q	c.518G>A	173 Arg > Gln	1 (4)	[36]
	p.R173W	c.517C>T	173 Arg > Trp	3 (4)	[37]
	p.R201W	c.601C>T	201 Arg > Trp	1 (1)	[38]
	p.Q204X	c.610C>T	204 Gln > Stop	1 (3)	[37]
I10	IVS10ds-1G>T	c.612G>T	Deletion of 3 aa in exon 10	3 (8)	[35]
E12	p.V221fsX242	c.665insA	Out of frame insertion of A at 665	1 (3)	[28]
	p.T243fsX249	c.728_729delCT	Out of frame deletion of 2 bp at 728-729	1 (5)	[28]
I12	IVS12ds+1G>A	c.771+1G>A	5′splice site mutation, deletion of exon 12	1 (1)	[28]
	IVS12as-1G>A	c.772-1G>A	3′splice site mutation, deletion of exon 13	1 (3)	[39]
E13	p.K272fsX287	c.815_818delAGGA	Out of frame deletion of 4 bp at 815	1 (3)	[28]
E14	p.G281del	c.841_843delGGA	In-frame deletion of GGA at 841	2 (7)	[28]
I14	IVS14-2A>G	c.913-2A>G	3′splice site mutation, deletion exon 15	1 (1)	[40]
	IVS14as-1G>A	c.913-1G>A	3′splice site mutation, deletion of exon 15	1 (1)	This report
E15	p.H301fsX306	c.913insC	Out of frame insertion of C at 913	2 (5)	[41]
	p.V315fsX328	c.948delA	Out of frame deletion of A at 948	1 (2)	[28]
	p.L329fsX341	c.985delTTGGCTGCCCAG	In-frame deletion of 329 LAAQ	1 (5)	[28]
	p.R321H	c.962G>A	321 Arg > His	1 (4)	[22]
	p.G335S	c.1003G>A	335 Gly > Ser	1 (4)	[28]
	g.3078_8306del5228bp		Deletion of 5228 bp from intron 2 to intron 15	2 (7)	This report