Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network

Lopez-Campos, José Luis; Rapun, Noelia; Czischke, Karen; Jardim, José R.; Acquier, Mariano Fernandez; Munive, Abraham Ali; Günen, Hakan; Drobnic, Estrella; Miravitlles, Marc; Osaba, Lourdes

doi:10.1186/s40246-023-00497-1

Human Genomics

Table 3 Summary of the main characteristics of the mutations found

From: Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network

Allele name	Base	Nucleotide change	Amino acid change	SNP code	ClinVar code	AAT level (%)	AAT activity	Lung risk	Liver risk	References
F		c.739C > T	p.Arg247Cys	rs28929470	17,961	80	Reduced	Low	Low	[22]
I		c.187C > T	p.Arg63Cys	rs28931570	17,974	50	Reduced	Low	Low	[22]
M_procida		c.194 T > C	p.Leu65Pro	rs28931569	17,971	10	Slightly reduced	High	Low	[40]
M_heerlen		c.1178C > T	p.Pro393Leu	rs199422209	17,965	2	Reduced	High	Low	[38]
M_wurzburg	M1V	c.1177C > T	p.Pro393Ser	rs61761869	289,135	10–15	Reduced	High	Low	[36]
M_{vall d’hebron}	M1A	c.1177C > T	p.Pro393Ser	rs61761869	289,135	10–15	Reduced	High	Low	[37]
M_palermo	M1V	c.227_229delTCT	p.Phe76del	rs775982338	315,028	15	Reduced	High	High	[33]
M_malton	M2	c.227_229delTCT	p.Phe76del	rs775982338	315,028	15	Reduced	High	High	[31]
M_nichinan†		c.227_229delTCT	p.Phe76del	rs775982338	315,028	15	Reduced	High	High	[32]
M_nichinan†		c.514G > A	p.Gly172Arg	rs112030253	393,473	15	Reduced	High	High	[32]
P_lowell	M1V	c.839A > T	p.Asp280Val	rs121912714	17,975	40	Reduced	High	High	[42]
P_duarte Q0_cardiff	M4	c.839A > T	p.Asp280Val	rs121912714	17,975	40	Reduced	High	Low	[43]
Q0_bellingham		c.721A > T	p.Lys241*	rs199422211	17,977	Undetectable		High	Low	[52]
Q0_granitefalls		c.552delC	p.Tyr184*	rs267606950	17,976	Undetectable		High	Low	[53]
Q0_madrid	M3	c.-5 + 2dupT	NA	Not Reported	Not Reported	Undetectable		High	Low	[54]
Q0_faro	M1V	c.-5 + 2dupT	NA	Not Reported	Not Reported	Undetectable		High	Low
Q0_mattawa	M1	c.1130dupT	p.Leu377Phefs*24	rs763023697	552,891	Undetectable		High	Low	[55]
Q0_ouren	M3	c.1130dupT	p.Leu377Phefs*24	rs763023697	552,891	Undetectable		High	Low	[56]
Q0_west		c.646 + 1G > T	NA	rs751235320	189,064	Undetectable		High	Low	[57]
Q0_clayton Q0_saarbruecken		c.1158dupC	p.Glu387Argfs*14	rs764325655	188,845	Undetectable		High	Low	[58] [33]
S_iiyama		c.230C > T	p.Ser77Phe	rs55819880	17,992	30	Slightly reduced	High	High	[59]
Y_barcelona‡		c.839A > T	p.Asp280Val	rs121912714	17,975	10	Reduced	High	High	[21]
Y_barcelona‡		c.1244C > A	p.Pro415His	Not Reported	Not Reported	10	Reduced	High	High
Y_orzinuovi		c.1244C > A	p.Pro415His	Not Reported	Not Reported	10	Reduced	High	High	[46]
Z_bristol	M1V	c.326C > T	p.Thr85Met	rs199422213	17,993	15	Reduced	High	High	[48]
Z_wrexham		c.17C > T	p.Ser6Leu	rs140814100	17,970	15	Reduced	High	High	[51]

RefSeq: NM_001127701.1
^†The M_nichinan variant has been described as a haplotype that combines the M_malton and c.514G > A variants (a variant that does not seem to have a deleterious effect on its own)
^‡Y_barcelona results from the combination of P_lowell and Y_orzinuovi
NA not applicable

Back to article page

ISSN: 1479-7364

Contact us

General enquiries: journalsubmissions@springernature.com