Table 1
Mutations in PGL genes
Gene  cDNA mutations  Protein change  Phenotype  Reference 

SDHB (PGL4)  c 79 C>T  R27X  NPhaeo 
77

 c.8687 insCAG  A29Q30 insQ  NPhaeo 
77

 *c.136 C>G  R46G  NPhaeo 
77

 c.174175 GC>TT  Q59X  NHNP 
62

 c.207210 insC  M71fs  FHNP 
62

 *c.268 C>T  R90X  FPhaeo+HNP 
44

 *c.302 G>A  C101Y  NPhaeo 
77

 c.392 C>G  P131R  FHNP 
62

 c.574 T>C  C192R  NPhaeo 
77

 c.587 G>A  C196Y  NPhaeo 
77

 c.590 C>G  P197R  FPhaeo 
44

 c.591 delC  P197fs  NPhaeo 
44

 *c.713718 delTCTC  L240fs  NPhaeo 
77

 c.725 G>A  R242H  NPhaeo 
77

 c.747 C>A  C249X  NPhaeo 
77

SDHC(PGL3)  c.3 G>A  ?Aberrant initiation  FHNP 
45

SDHD(PGL1)  c.1 G>C  ?Aberrant initiation  FHNP 
59

 IVS1+2 T>G  ?Aberrant splicing  NPhaeo 
77,
79

 c.3637 delTG  A13fs  NPhaeo 
77

 c.14 G>A  W5X  NPhaeo 
77

 *c.33 C>A  C11X  NPhaeo 
77

 c.54 insC  A18fs  FHNP 
60

 *c.64 C>T  R22X  FHNP+phaeo 
55,
60

 (c.95 C>T)  S32X  FHNP 
58

 c.9497 delCT  S32fs  FPhaeo 
61

 c.106 C>T  Q36X  FHNPs 
46

 *c.112 C>T  R38X  FHNP, Nphaeo 
46,
60,
62,
77,
79

 c.120 insC  P41fs  FHNP 
60

 c.191192 delTC  L64fs  FHNP 
59

 c.208 A>G  R70G  FHNP 
60

 *c.242 C>T  P81L  FHNP, NHNP 
46,
58–
60,
62

 *c.274 G>T  D92Y  FHNP, NHNP,NPhaeo 
46,
60,
77

 c.276278 delCTA  Del Y93  FHNP 
59

 c.284 T>C  L95P  NHNP 
60

 c.305 A>T  H102L  FHNP 
46

 c.325 C>T  Q109X  FHNP 
62

 (c.336337 insT)  D113X  FHNP 
58

 c.361 C>T  Q121X  NPhaeo 
77

 (c.341 A>G)  Y114C  FHNP 
58

 c.381383 delG  L128fs  FHNP 
62

 *c.416 T>C  L139P  NHNP, FHNP 
60

 (c.441443 delG)  G148fs  FHNP 
58

 c.149 A>G  H50R, polymorphism?  MC, MCC 
67
