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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).

From: No evidence for involvement of SDHD in neuroblastoma pathogenesis

NB tumour case number / NB cell line 11q23 status by microsatellite marker analysis 11q23 status by FISH SDHD base pair variant exon change in protein mutation (M) or polymorphism (P) variant present in constitutional (C)/ tumour (T) MYCN 1p del stage
F11 normal n.d. g.6911ins(TCTA) IVS2+37ins(TCTA) ? (see text) ? (see text) C+T normal no 4
F18 unb [11q] LOH n.d. g.5842 G>A 1 G12S P C+T normal yes 4
    g.7750 A>G IVS3-29 A>G   P C+T    
    g.7802 C>T 3 S68S P C+T    
    g.13678 T>C IVS4-32 T>C   P C+T    
F22 whole chr11 loss n.d. g.7750 A>G IVS3-29 A>G   P C normal no 3
    g.7802 C>T 3 S68S P C    
    g.13678 T>C IVS4-32 T>C   P C    
F35 unb [11q] LOH n.d. g.7750 A>G IVS3-29 A>G   P C+T    
    g.7802 C>T 3 S68S P C+T    
    g.13678 T>C IVS4-32 T>C   P C+T    
LA-N-2 n.d. 2/2 heterozygous g.6854 A>G 2 H50R P - amplified no 4
N206 n.d. 2/2 heterozygous g.79124del(GGCA) 3 exon 3 skip, premature stop codon M - amplified yes 4
NGP n.d. 2/1 hemizygous g.7750 A>G IVS3-29 A>G   P - amplified yes -
    g.7802 C>T 3 S68S P     
    g.13678 T>C IVS4-32 T>C   P     
NMB n.d. 4/3 allelic imbalance/ heterozygous (based on sequence) g.7750 A>G IVS3-29 A>G   P - amplified yes 4
    g.7802 C>T 3 S68S P     
    g.7876 A>G 3 Y93C M     
    g.13678 T>C IVS4-32 T>C   P     
SK-N-FI n.d. 2/2 heterozygous g.7750 A>G IVS3-29 A>G   P - no no -
    g.7802 C>T 3 S68S P     
    g.13678 T>C IVS4-32 T>C   P