Table 4 SDHD base pair variants found in NB tumour samples and cell lines, the position of the variant, the change in the protein caused by the variant and the conclusion (mutation or polymorphism); also listed for each tumour and cell line are the genomic status for chromosome arm 11q (n.d. = not done) (for cell lines: chromosome 11 centromere copy number versus 11q23 copy number according to FISH, for tumours: normal, unbalanced LOH (unb [11q]LOH) or whole chromosome 11 loss according to microsatellite marker analysis), MYCN status (normal or amplified), 1p status and tumour stage when available (- = not available).

F11

normal

n.d.

g.6911ins(TCTA)

IVS2+37ins(TCTA)

normal

no

4

F18

unb [11q] LOH

n.d.

g.5842 G>A

1

normal

yes

4

g.7750 A>G

IVS3-29 A>G

g.7802 C>T

3

g.13678 T>C

IVS4-32 T>C

F22

whole chr11 loss

n.d.

g.7750 A>G

IVS3-29 A>G

normal

no

3

g.7802 C>T

3

g.13678 T>C

IVS4-32 T>C

F35

unb [11q] LOH

n.d.

g.7750 A>G

IVS3-29 A>G

g.7802 C>T

3

g.13678 T>C

IVS4-32 T>C

LA-N-2

n.d.

2/2 heterozygous

g.6854 A>G

2

amplified

no

4

N206

n.d.

2/2 heterozygous

g.79124del(GGCA)

3

amplified

yes

4

NGP

n.d.

2/1 hemizygous

g.7750 A>G

IVS3-29 A>G

amplified

yes

-

g.7802 C>T

3

g.13678 T>C

IVS4-32 T>C

NMB

n.d.

4/3 allelic imbalance/ heterozygous (based on sequence)

g.7750 A>G

IVS3-29 A>G

amplified

yes

4

g.7802 C>T

3

g.7876 A>G

3

g.13678 T>C

IVS4-32 T>C

SK-N-FI

n.d.

2/2 heterozygous

g.7750 A>G

IVS3-29 A>G

no

no

-

g.7802 C>T

3

g.13678 T>C

IVS4-32 T>C