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

From: Identification and characterisation of eight novel SERPINA1 Null mutations

Mechanism Allele Intron/exon Mutation Reference
Large deletion Q0isola di procida Intron IC g8801,del17.65 kb [14]
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]
  1. For intronic mutations, reference sequence was NG_008290; dbSNP identification was reported where present.