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 | ||
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] |