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Table 1 Germline mutations in p16CDKN2Aand BRCA2 genes.

From: Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy

Gene Nucleotide Codon Base Change Amino Acid Change Designation
P16 CDKN2A 35 12 C to A Ser to Stop S12X
P16 CDKN2A 71 24 G to C Arg to Pro A24P
P16 CDKN2A 76 26 G to T Glu to Stop E26X
P16 CDKN2A 106 36 G to A Ala to Thr A36T
P16 CDKN2A 176 59 T to G Val to Gly V59G
P16 CDKN2A 301 101 G to T Gly to Trp G101W
P16 CDKN2A 326 109 C to T Ala to Val A109V
BRCA2 8503 2835 T to C Ser to Pro Ser2835Pro
BRCA2 8765 2845 delAG Stop 2867 8765delAG