Table 1.

Plexin mutations found in melanoma and PDAC

GENE†	OMIM	NUCLEOTIDE	AMINO ACID	ZYGOSITY	PUTATIVE LOCATION IN PROTEIN	SAMPLE
PLXNA4	604280	c.1920G>C	p.K640N	heterozygous	Sema domain	11A (melanoma)
		c.3460G>A	p.E1154K	heterozygous	Extracellular, Interdomain between PSI domains 2 and 3	16A (melanoma)
		c.5206C>T	p.H1736Y	heterozygous	Cytoplasmic domain	14A (melanoma)
PLXNB3	300214	c.1613G>A	p. R538H	heterozygous	Extracellular, Interdomain between PSI domains 1 and 2	384 (PDAC)
PLXNC1	604259	c.1204+1G>T	splice var.	heterozygous	Intronic, potentially affects splicing*	18A* (melanoma)
		c.1475A>T	p.N492I	heterozygous	Extracellular, PSI domain 1	370 (PDAC)
		c.2554G>A	p.E852K	heterozygous	Extracellular, second IPT domain	375 (PDAC)

List of the seven mutations found in the coding sequence of PLXNA4, PLXNB3 and PLXNC1. The position of nucleotide mutations corresponds to that in the coding sequence of each gene, where position 1 is the A of ATG initiation codon. Zygosity of the mutations is shown.

^*PLXNC1 was also mutated in the splice donor site flanking exon 2 in melanoma sample 18A (c.1204+1G>T).

^†GenBank accession numbers for plexins with mutations are: PLXNA4 (NM_020911.1), PLXNB3 (NM_005393.1) and PLXNC1 (NM_005761.1).