Table 2.
PAHD variants and allele distributions in PAHD patients
| Index | Exon /intron |
Nucleotide change |
Amino acid change | Variant type |
Allele frequency |
|---|---|---|---|---|---|
| 1 | E2 | c.158G > A | p.Arg53His | Missense | 9/94(9.57 %) |
| 2 | E3 | c.194T > C | p.Ile65Thr | Missense | 1/94(1.06 %) |
| 3 | E3 | c.223G > C | p.Asp75His | Missense | 1/94(1.06 %) |
| 4 | E3 | c.301G > A | p.Asp101Asn | Missense | 2/94(2.13 %) |
| 5 | E3 | c.331 C > T | p.Arg111Ter | Nonsense | 3/94(3.19 %) |
| 6 | E5 | c.464G > A | p.Arg155His | Missense | 1/94(1.06 %) |
| 7 | E5 | c.472 C > T | p.Arg158Trp | Missense | 1/94(1.06 %) |
| 8 | E5 | c.494 C > A | p.Ala165Asp | Missense | 1/94(1.06 %) |
| 9 | E5 | c.505 C > A | p.Arg169Ser | Missense | 1/94(1.06 %) |
| 10 | E6 | c.527G > A | p.Arg176Gln | Missense | 2/94(2.13 %) |
| 11 | E6 | c.611 A > G | p.Tyr204Cys | Splice | 7/94(7.44 %) |
| 12 | E6 | c.649T > C | p.Cys217Arg | Missense | 1/94(1.06 %) |
| 13 | E6 | c.659 A > C | p.His220Pro | Missense | 1/94(1.06 %) |
| 14 | E7 | c.688G > A | p.Val230Ile | Missense | 1/94(1.06 %) |
| 15 | E7 | c.721 C > T | p.Arg241Cys | Missense | 6/94(6.38 %) |
| 16 | E7 | c.722G > C | p.Arg241Pro | Missense | 1/94(1.06 %) |
| 17 | E7 | c.722delG | p.Arg241fs | In-frame | 1/94(1.06 %) |
| 18 | E7 | c.728G > A | p.Arg243Gln | Missense | 13/94(13.83 %) |
| 19 | E7 | c.755G > A | p.Arg252Gln | Missense | 1/94(1.06 %) |
| 20 | E9 | c.964G > A | p.Ala322Thr | Missense | 1/94(1.06 %) |
| 21 | E9 | c.965 C > A | p.Ala322Asp | Missense | 1/94(1.06 %) |
| 22 | E10 | c.971T > A | p.Ile324Asn | Missense | 1/94(1.06 %) |
| 23 | E10 | c.1045T > G | p.Ser349Ala | Missense | 4/94(4.26 %) |
| 24 | E11 | c.1068 C > A | p.Tyr356Ter | Nonsense | 2/94(2.13 %) |
| 25 | E11 | c.1123 C > G | p.Glu375Glu | Missense | 1/94(1.06 %) |
| 26 | E11 | c.1174T > A | p.Phe392Ile | Missense | 4/94(4.26 %) |
| 27 | E11 | c.1197 A > T | p.Val399= | Missense | 2/94(2.13 %) |
| 28 | E12 | c.1222 C > T | p.Arg408Trp | Missense | 1/94(1.06 %) |
| 29 | E12 | c.1238G > C | p.Arg413Pro | Missense | 5/94(5.32 %) |
| 30 | E12 | c.1243G > A | p.Asp415Asn | Missense | 1/94(1.06 %) |
| 31 | E12 | c.1301 C > A | p.Ala434Asp | Missense | 3/94(3.19 %) |
| 32 | I1 | c.84-291 A > G | Splice | 2/94(2.13 %) | |
| 33 | I2 | c.168 + 5G > C | Splice | 1/94(1.06 %) | |
| 34 | I3 | c.353-2 A > T | Splice | 1/94(1.06 %) | |
| 35 | I4 | c.442-1G > A | Splice | 3/94(3.19 %) | |
| 36 | I5 | c.509 + 5delG | Splice | 1/94(1.06 %) | |
| 37 | I12 | c.1315 + 5G > C | Splice | 1/94(1.06 %) | |
| 38# | E2 | c.155 A > G | p.Asn52Ser | Missense | 1/94(1.06 %) |
| 39* | E7 | c.735G > A | p.Val245= | SNV | 1/94(1.06 %) |
| 40* | I4 | c.61-907T > C | SNV | 1/94(1.06 %) | |
| 410 | - | - | Undetected | 2/94(2.13 %) | |
| Total | 94 |
# mutation on PTS; * Not specified variants site; 0 undetected variants