PCFT mutations identified in patients with HFM and the resulting changes in protein composition*
| Patient . | Nucleotide change† . | Amino acid changes . |
|---|---|---|
| 1 | c.194delG‡ | p. G65AfsX25 |
| 2 | c.337C > A | p. R113S |
| 3 | c.439G > C | p. G147R |
| 4 | c.1274C > G | p. P425R |
| 5 | c.954C > G; c.1126C > T | p. S318R; p. R376W |
| 6, 7§ | c.1082-1G > A | p. Y362_G389del |
| Patient . | Nucleotide change† . | Amino acid changes . |
|---|---|---|
| 1 | c.194delG‡ | p. G65AfsX25 |
| 2 | c.337C > A | p. R113S |
| 3 | c.439G > C | p. G147R |
| 4 | c.1274C > G | p. P425R |
| 5 | c.954C > G; c.1126C > T | p. S318R; p. R376W |
| 6, 7§ | c.1082-1G > A | p. Y362_G389del |
The mutations are described according to the nomenclature derived by the Human Genome Variation Society (http://www.hgvs.org/mutnomen).
Since there is a span of seven Gs from position 188-194, the deleted G was arbitrarily assigned to the last G, or G194.
The PCFT mutation in this family was recently reported by this laboratory.5