Table 2.
PHEX mutations found in this study
| Pr | Inh | E/I | cDNA* | Protein** | Mutation Type | PHEXdb ID |
|---|---|---|---|---|---|---|
| 1 | F | E 01 | c.77_78del | p.Phe26CysfsX24 | Deletion | 261 |
| 2 | S | E 03 | c.188-?_349+?del | p.? | Del (> 0.16 Kb) | 264 |
| 3 | F | E 03 | c.188-?_349+?dup | p.Ala63_Lys116dup | Dup (E3) | 262 |
| 4 | F | E 03 | c.212A > T | p.Asn71Ile | Missense | 263 |
| 5 | S | E 04 | c.395_398dup | p.Gln133HisfsX14 | Duplication | 265 |
| 6 | S | I 04 | c.436+3G > C | p.? | Splicing | 266 |
| 7 | S | E 05 | c.565C > T | p.Gln189X | Nonsense | 171 [24] |
| 8 | S | E 05 | c.591A > G | p. = | Splicing | 267 |
| 9 | F | E 06 | c.682dup | p.Ser228PhefsX10 | Duplication | 268 |
| 10 | F | E 07 | c.750C > G | p.Tyr250X | Nonsense | 269 |
| 11 | S | E 07 | c.784G > C | p.Ala262Pro | Missense | 270 |
| 12 | S | E 08 | c.897_898del | p.Lys299AsnfsX5 | Deletion | 271 |
| 13 | S | E 10 | c.1105A > T | p.Arg369X | Nonsense | 272 |
| 14 | S | I 10 | c.1173+1G > A | p.? | Splicing | 273 |
| 15 | S | E 13-15 | c.1405-?-1645+? | p? | Del (> 22 Kb) | 274 |
| 16 | S | E 13-22 | c.1412-?-2250+? | p.Ile495TrpfsX20 | Del (> 80 Kb) | 275 |
| 17 | S | I 13 | c.1482+4delA | p.? | Splicing | 276 |
| 18 | S | E 14 | c.1529G > C | p.Arg510Pro | Missense | 133 [25] |
| 19 | S | E 14 | c.1543C > T | p.Gln515X | Nonsense | 277 |
| 20 | S | E 15 | c.1639C > T | p.Gln547X | Nonsense | 278 |
| 21 | S | E 15 | c.1645C > T | p.Arg549X | Nonsense | 13 [23] |
| 22 | S | E 15 | c.1645C > T | p.Arg549X | Nonsense | 13 [23] |
| 23 | S | I 15 | c.1645+1G > A | p.Phe550fsX21 | Splicing | 155 [26] |
| 24 | S | E 16-22 | c.1646-?-2250+? | p.? | Del (> 34 Kb) | 279 |
| 25 | S | E 17-20 | c.1701-?_2070+? | p.? | Del (> 29 Kb) | 280 |
| 26 | S | E 17 | c.1735G > A | p.Gly579Arg | Missense | 90 [23] |
| 27 | S | I 17 | c.1768+174_1768+177dupTAAG | p.? | Splicing | 281 |
| 28 | S | E 18 | c.1825G > T | p.Glu609X | Nonsense | 282 |
| 29 | S | E 19 | c.1936_1938del | p.Asp646del | Del (in frame) | 283 |
| 30 | S | E 19 | c.1952G > C | p.Arg651Pro | Missense | 76 [13] |
| 31 | S | I 19 | c.1965+1G > A | p.? | Splicing | 62 [23] |
| 32 | S | E 21 | c.2104C > T | p.Arg702X | Nonsense | 16 [23] |
| 33 | F | E 21 | c.2104C > T | p.Arg702X | Nonsense | 16 [23] |
| 34 | S | E 21 | c.2138_2139dupCT | p.Gln714LeufsX27 | Duplication | 284 |
| 35 | S | E 22 | c.2168dupA | p.Asn723LysfsX3 | Duplication | 285 |
| 36 | S | E 22 | c.2239C > T | p.Arg747X | Nonsense | 17 [13] |
Pr proband, Inh inheritance, (F familial, S sporadic), E/I Exon/Intron, *[GenBank ID: NM_000444.4], **[Swiss-Prot: P78562], PHEXdb ID identification in the PHEX mutation database [18] in bold novel mutations