Table 1

Mutations in PGL genes

GenecDNA mutationsProtein changePhenotypeReference
The cDNA numbering starts with the first nucleotide of the initiation codon.
The nucleotide changes in parentheses were deduced from the protein changes.
*Mutations described in multiple unrelated subjects.
F-, familial; N-, non-familial; HNP, head and neck paraganglioma; Phaeo, phaeochromocytoma; MC, midgut carcinoid; MCC, Merkel cell carcinoma.
SDHB (PGL4)c 79 C>TR27XN-Phaeo 77
c.86-87 insCAGA29-Q30 insQN-Phaeo 77
*c.136 C>GR46GN-Phaeo 77
c.174-175 GC>TTQ59XN-HNP 62
c.207-210 insCM71fsF-HNP 62
*c.268 C>TR90XF-Phaeo+HNP 44
*c.302 G>AC101YN-Phaeo 77
c.392 C>GP131RF-HNP 62
c.574 T>CC192RN-Phaeo 77
c.587 G>AC196YN-Phaeo 77
c.590 C>GP197RF-Phaeo 44
c.591 delCP197fsN-Phaeo 44
*c.713-718 delTCTCL240fsN-Phaeo 77
c.725 G>AR242HN-Phaeo 77
c.747 C>AC249XN-Phaeo 77
SDHC(PGL3)c.3 G>A?Aberrant initiationF-HNP 45
SDHD(PGL1)c.1 G>C?Aberrant initiationF-HNP 59
IVS1+2 T>G?Aberrant splicingN-Phaeo 77, 79
c.36-37 delTGA13fsN-Phaeo 77
c.14 G>AW5XN-Phaeo 77
*c.33 C>AC11XN-Phaeo 77
c.54 insCA18fsF-HNP 60
*c.64 C>TR22XF-HNP+phaeo 55, 60
(c.95 C>T)S32XF-HNP 58
c.94-97 delCTS32fsF-Phaeo 61
c.106 C>TQ36XF-HNPs 46
*c.112 C>TR38XF-HNP, N-phaeo 46, 60, 62, 77, 79
c.120 insCP41fsF-HNP 60
c.191-192 delTCL64fsF-HNP 59
c.208 A>GR70GF-HNP 60
*c.242 C>TP81LF-HNP, N-HNP 46, 58– 60, 62
*c.274 G>TD92YF-HNP, N-HNP,N-Phaeo 46, 60, 77
c.276-278 delCTADel Y93F-HNP 59
c.284 T>CL95PN-HNP 60
c.305 A>TH102LF-HNP 46
c.325 C>TQ109XF-HNP 62
(c.336-337 insT)D113XF-HNP 58
c.361 C>TQ121XN-Phaeo 77
(c.341 A>G)Y114CF-HNP 58
c.381-383 delGL128fsF-HNP 62
*c.416 T>CL139PN-HNP, F-HNP 60
(c.441-443 delG)G148fsF-HNP 58
c.149 A>GH50R, polymorphism?MC, MCC 67