Table 1
Mutations in PGL genes
Gene | cDNA mutations | Protein change | Phenotype | Reference |
---|
SDHB (PGL4) | c 79 C>T | R27X | N-Phaeo |
77
|
| c.86-87 insCAG | A29-Q30 insQ | N-Phaeo |
77
|
| *c.136 C>G | R46G | N-Phaeo |
77
|
| c.174-175 GC>TT | Q59X | N-HNP |
62
|
| c.207-210 insC | M71fs | F-HNP |
62
|
| *c.268 C>T | R90X | F-Phaeo+HNP |
44
|
| *c.302 G>A | C101Y | N-Phaeo |
77
|
| c.392 C>G | P131R | F-HNP |
62
|
| c.574 T>C | C192R | N-Phaeo |
77
|
| c.587 G>A | C196Y | N-Phaeo |
77
|
| c.590 C>G | P197R | F-Phaeo |
44
|
| c.591 delC | P197fs | N-Phaeo |
44
|
| *c.713-718 delTCTC | L240fs | N-Phaeo |
77
|
| c.725 G>A | R242H | N-Phaeo |
77
|
| c.747 C>A | C249X | N-Phaeo |
77
|
SDHC(PGL3) | c.3 G>A | ?Aberrant initiation | F-HNP |
45
|
SDHD(PGL1) | c.1 G>C | ?Aberrant initiation | F-HNP |
59
|
| IVS1+2 T>G | ?Aberrant splicing | N-Phaeo |
77,
79
|
| c.36-37 delTG | A13fs | N-Phaeo |
77
|
| c.14 G>A | W5X | N-Phaeo |
77
|
| *c.33 C>A | C11X | N-Phaeo |
77
|
| c.54 insC | A18fs | F-HNP |
60
|
| *c.64 C>T | R22X | F-HNP+phaeo |
55,
60
|
| (c.95 C>T) | S32X | F-HNP |
58
|
| c.94-97 delCT | S32fs | F-Phaeo |
61
|
| c.106 C>T | Q36X | F-HNPs |
46
|
| *c.112 C>T | R38X | F-HNP, N-phaeo |
46,
60,
62,
77,
79
|
| c.120 insC | P41fs | F-HNP |
60
|
| c.191-192 delTC | L64fs | F-HNP |
59
|
| c.208 A>G | R70G | F-HNP |
60
|
| *c.242 C>T | P81L | F-HNP, N-HNP |
46,
58–
60,
62
|
| *c.274 G>T | D92Y | F-HNP, N-HNP,N-Phaeo |
46,
60,
77
|
| c.276-278 delCTA | Del Y93 | F-HNP |
59
|
| c.284 T>C | L95P | N-HNP |
60
|
| c.305 A>T | H102L | F-HNP |
46
|
| c.325 C>T | Q109X | F-HNP |
62
|
| (c.336-337 insT) | D113X | F-HNP |
58
|
| c.361 C>T | Q121X | N-Phaeo |
77
|
| (c.341 A>G) | Y114C | F-HNP |
58
|
| c.381-383 delG | L128fs | F-HNP |
62
|
| *c.416 T>C | L139P | N-HNP, F-HNP |
60
|
| (c.441-443 delG) | G148fs | F-HNP |
58
|
| c.149 A>G | H50R, polymorphism? | MC, MCC |
67
|