Identification and characterisation of eight novel SERPINA1 Null mutations

Table 3 List of the 24 Null mutation SERPINA1 described to date

Mechanism	Allele	Intron/exon	Mutation	Reference
Large deletion	Q0isola di procida	Intron IC	g8801,del17.65 kb	[14]
Large deletion	Q0riedenburg	Exon IC	Complete deletion of the gene	[28]
Intron mutations	Q0savannah	Intron IA	g.5307_5308ins8bp	[29]
	Q0porto	Intron IC	+1G > A	[30]
	Q0madrid	Intron IC	+3, insT	[31]
	Q0west	Intron II	+1G > T	[15]
	Q0bonny blue	Intron II	+1delG	[23]
Nonsense mutations	Q0kowloon	Exon II	Y 38TAC > Ter TAA	[23]
	Q0chillichote	Exon II	Q 156CAG > Ter TAG	[29]
	Q0amersfoort or Q0predevoort rs199422210	Exon II	Y 160TAC > Ter TAG	[19],[32]
	Q0trastevere	Exon III	W194 TGG > Ter TGA	[16]
	Q0bellingham rs199422211	Exon III	K 217AAG > Ter TAG	[33]
	Q0cairo rs1802963	Exon III	K 259AAA > Ter TAA	[34]
Frameshift mutations	Q0milano	Exon III	K59,del17bp > Ter AAA	[35]
	Q0soest	Exon II	T102ACC,del A > Ter 112 TGA	[32]
	Q0granite falls rs267606950	Exon II	YTAC, delC > Ter 160 TAG	[36]
	Q0hong kong	Exon IV	L318CTC, del TC > Ter 334 TAA	[17]
	Q0mattawa rs28929473	Exon V	L353 TTA, ins T > Ter 376 TGA	[37]
	Q0ourem	Exon V	L 352TTA, ins T > Ter 376 TGA	[38]
	Q0bolton	Exon V	P362CCC, delC > Ter 373 TAA	[39]
	Q0clayton	Exon V	P 362CCC,ins C > Ter 376 TGA, and M1(Val)	[40]
	Q0saarbruecken	Exon V	P362CCC,ins C > Ter 376 TGA, and M1(Ala)	[41]
Missense mutations	Q0lisbon	Exon II	T68ACC > I ATC	[41]
	Q0ludwigshafen rs28931572	Exon II	I92ATC > N AAC	[42]
	Q0newport	Exon II	G115GGC > S AGC	[43]
	Q0new hope	Exon IV	G320GGG > E GAG and E342GAG > L AAG	[23]

For intronic mutations, reference sequence was NG_008290; dbSNP identification was reported where present.

ISSN: 1750-1172