Table 2. PAH mutations identified in Uygur HPA patients.
| No. | Base change | Amino acid | Mutation type | Exon | Homozygote/heterozygote | Alleles (allele frequency %) | Allele in subclinical type | ||
|---|---|---|---|---|---|---|---|---|---|
| MHP | mPKU | cPKU | |||||||
| 1 | c.311C > A& | p.A104D& | Missense | E3 | 4/11 | 19 (8.41) | 1 | 10 | 4 |
| 2 | c.1238G > C& | p.R413P& | Missense | E12 | 3/12 | 18 (7.96) | 1 | 6 | 8 |
| 3 | c.728G > A& | p.R243Q& | Missense | E7 | 0/15 | 15 (6.64) | 3 | 5 | 7 |
| 4 | c.1066-11G > A& | IVS10-11G > A& | Splice | I10 | 3/8 | 14 (6.19) | 0 | 6 | 5 |
| 5 | c.158G > A& | p.R53H& | Missense | E2 | 2/8 | 12 (5.31) | 4 | 5 | 1 |
| 6 | c.1316-1G > A#,& | IVS13-2G > A#,& | Splice | I13 | 3/4 | 10 (4.42) | 0 | 5 | 2 |
| 7 | c.688G > A | p.V230I | Missense | E6 | 0/7 | 7 (3.10) | 4 | 3 | 0 |
| 8 | c.898G > T | p.A300S | Missense | E8 | 0/7 | 7 (3.10) | 3 | 4 | 0 |
| 9 | c.1200-2A > C# | IVS12-2A > C# | Splice | I12 | 0/7 | 7 (3.10) | 0 | 2 | 5 |
| 10 | c.1301C > A | p.A434D | Missense | E12 | 2/3 | 7 (3.10) | 1 | 4 | 0 |
| 11 | c.1199+1G > C | IVS11+1G > C | Splice | I11 | 1/4 | 6 (2.65) | 0 | 2 | 3 |
| 12 | c.781C > T | p.R261* | Nonsense | E7 | 1/4 | 6 (2.65) | 0 | 1 | 4 |
| 13 | c.611A > G | p.EX6-96A > G | Splice | E6 | 1/4 | 6 (2.65) | 0 | 1 | 4 |
| 14 | c.208_210delTCT | p.S70del | Deletion | E3 | 3/0 | 6 (2.65) | 0 | 3 | 0 |
| 15 | c.782G > A | p.R261Q | Missense | E7 | 3/0 | 6 (2.65) | 0 | 2 | 1 |
| 16 | c.331C > T | p.R111* | Nonsense | E3 | 1/2 | 4 (1.77) | 0 | 2 | 1 |
| 17 | c.1222C > T | p.R408W | Missense | E12 | 1/2 | 4 (1.77) | 0 | 1 | 2 |
| 18 | c.355C > T | p.P119S | Missense | E4 | 0/3 | 3 (1.33) | 2 | 1 | 0 |
| 19 | c.544G > A | p.E182K | Missense | E6 | 0/3 | 3 (1.33) | 0 | 3 | 0 |
| 20 | c.722G > A | p.R241H | Missense | E7 | 0/3 | 3 (1.33) | 1 | 2 | 0 |
| 21 | c.1169A > G | p.E390G | Missense | E11 | 0/3 | 3 (1.33) | 1 | 2 | 0 |
| 22 | c.1197A > T | p.V399V | Splice | E11 | 0/3 | 3 (1.33) | 0 | 2 | 1 |
| 23 | c.440C > T | p.P147L | Missense | E4 | 1/1 | 3 (1.33) | 0 | 1 | 1 |
| 24 | c.482T > C | p.F161S | Missense | E5 | 1/1 | 3 (1.33) | 0 | 1 | 1 |
| 25 | c.1042C > G | p.L348V | Missense | E10 | 1/1 | 3 (1.33) | 0 | 0 | 2 |
| 26 | c.1252A > C | p.T418P | Missense | E12 | 1/1 | 3 (1.33) | 1 | 1 | 0 |
| 27 | c.1289T > C | p.L430P | Missense | E12 | 1/1 | 3 (1.33) | 0 | 2 | 0 |
| 28 | c.838G > A | p.E280K | Missense | E7 | 0/2 | 2 (0.88) | 0 | 2 | 0 |
| 29 | c.842+2T > A | IVS7+2T > A | Splice | I7 | 0/2 | 2 (0.88) | 1 | 1 | 0 |
| 30 | c.1068C > A | p.Y356* | Nonsense | E11 | 0/2 | 2 (0.88) | 0 | 1 | 1 |
| 31 | c.727C > T | p.R243* | Nonsense | E7 | 0/2 | 2 (0.88) | 0 | 1 | 1 |
| 32 | c.441+5G > T | IVS4+5G > T | Splice | I4 | 1/0 | 2 (0.88) | 0 | 0 | 1 |
| 33 | c.143T > C | p.L48S | Missense | E2 | 1/0 | 2 (0.88) | 0 | 1 | 0 |
| 34 | c.498C > G | p.Y166* | Nonsense | E5 | 1/0 | 2 (0.88) | 0 | 0 | 1 |
| 35 | c.913-7A > G | IVS8-7A > G | Splice | I9 | 1/0 | 2 (0.88) | 0 | 0 | 1 |
| 36 | c.1262T > C | p.I421T | Missense | E12 | 1/0 | 2 (0.88) | 1 | 0 | 0 |
| 37 | c.265C > A | p.P89T | Missense | E3 | 1/0 | 2 (0.88) | 0 | 1 | 0 |
| 38 | c.800A > T | p.G267L | Missense | E7 | 1/0 | 2 (0.88) | 0 | 1 | 0 |
| 39 | c.308G > A | p.G103D | Missense | E3 | 0/1 | 1 (0.44) | 0 | 0 | 1 |
| 40 | c.809G > A | p.R270K | Missense | E7 | 0/1 | 1 (0.44) | 0 | 1 | 0 |
| 41 | c.32T > A# | p.L11*# | Nonsense | E1 | 0/1 | 1 (0.44) | 0 | 0 | 1 |
| 42 | c.346_347_delGA# | p.K115 > Hfs# | Frameshift | E3 | 0/1 | 1 (0.44) | 0 | 1 | 0 |
| 43 | c.506G > A | p.R169H | Missense | E5 | 0/1 | 1 (0.44) | 1 | 0 | 0 |
| 44 | c.473G > A | p.R158Q | Missense | E5 | 0/1 | 1 (0.44) | 0 | 0 | 1 |
| 45 | c.574A > T | p.K192* | Nonsense | E6 | 0/1 | 1 (0.44) | 0 | 0 | 1 |
| 46 | c.590T > A# | p.L197*# | Nonsense | E6 | 0/1 | 1 (0.44) | 0 | 1 | 0 |
| 47 | c.694C > T | p.Q232* | Nonsense | E6 | 0/1 | 1 (0.44) | 0 | 1 | 0 |
| 48 | c.754C > T | p.R252W | Missense | E7 | 0/1 | 1 (0.44) | 0 | 0 | 1 |
| 49 | c.764T > C | p.L255S | Missense | E7 | 0/1 | 1 (0.44) | 0 | 0 | 1 |
| 50 | c.776C > T | p.A259V | Missense | E7 | 0/1 | 1 (0.44) | 0 | 0 | 1 |
| 51 | c.887A > G | p.D296G | Missense | E8 | 0/1 | 1 (0.44) | 0 | 0 | 1 |
| 52 | c.1102G > A# | p.E368K# | Missense | E11 | 0/1 | 1 (0.44) | 0 | 1 | 0 |
| 53 | c.1109A > G# | p.E370G# | Missense | E11 | 0/1 | 1 (0.44) | 1 | 0 | 0 |
| 54 | c.1139C > T | p.T380M | Missense | E11 | 0/1 | 1 (0.44) | 1 | 0 | 0 |
| 55 | c.1180G > C | p.D394H | Missense | E11 | 0/1 | 1 (0.44) | 1 | 0 | 0 |
| 56 | c.1223G > A | p.R408Q | Missense | E12 | 0/1 | 1 (0.44) | 1 | 0 | 0 |
| 57 | c.1304A > T# | p.D435V# | Missense | E12 | 0/1 | 1 (0.44) | 1 | 0 | 0 |
| 58 | c.842C > T | p.P281L | Missense | E7 | 0/1 | 1 (0.44) | 0 | 0 | 1 |
#,&, mentioned in main text. PAH, phenylalanine hydroxylase; HPA, hyperphenylalaninemia.