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Table 2 PAHD variants and allele distributions in PAHD patients

From: Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population

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
  1. # mutation on PTS; * Not specified variants site; 0 undetected variants