Table 2 Details of mutant genes
From: Association of novel MUC16, MAP3K15 and ABCA1 mutation with giant congenital melanocytic nevus
Gene | Nucleotide change | Amino acid change | Exon | MutationTaster | PolyPhen2 | SITF |
|---|---|---|---|---|---|---|
ABCA1 | c.6579C > G | p.I2193M | Exon49 | disease causing | – | – |
MAP3K15 | c.3272 T > G | p.V1091G | Exon23 | disease causing | – | Damaging |
MUC16 | c.40923C > T | p.F13641F | Exon59 | disease causing | – | – |