Table 1 Genetic, biochemical, microbiological and clinical characterization of the patients with the 11 novel mutations found: position and nomenclature of novel mutations found.
Old nomenclature (legacy name) | New nomenclature (HGVS name) | ||||
|---|---|---|---|---|---|
Position | Nucleotidic notation | Aminoacidic notation | Position | Nucleotidic notation | Aminoacidic notation |
Exon 10 | 1567G>T | E479X | exon 11 | c.1435G>T | p.Glu479* |
Exon 9 | 1456A>T | K442X | exon 10 | c.1324A>T | p.Lys442* |
Exon 11 | 1717G>A | D529N | exon 12 | c.1585G>A | p.Asp529Asn |
Exon 10 | 1526C>A | T465N | exon 11 | c.1394C>A | p.Thr465Asn |
Exon 2 | 188G>A | W19X(TAG) | exon 2 | c.56G>A | p.Trp19*(TAG) |
Exon 22 | 4256A>C | H1375P | exon 25 | c.4124A>C | p.His1375Pro |
Exon 13 | 2467C>T | Q779X | exon14 | c.2335C>T | p.Gln779* |
Exon 20 | 3871G>C | G1247R(G>C) | exon 23 | c.3739G>C | p.Gly1247Arg |
Exon 20 | 3862G>A | G1244R | exon 23 | c.3730G>A | p.Gly1244Arg |
Intron 7 | 1249-8A>G | — | intron 8 | c.1117-8A>G | — |
Exon 3 | 299A>G | E56G | exon 3 | c.167A>G | p.Glu56Gly |