Table 2. .

Novel SLC34A2 Sequence Variants Identified in Patients with PAM, Subjects with TM, and a Normal Control

Phenotype and Subject(s)	Mutation	Location	Effect on Translation	Predicted Consequence on Protein
PAM:
1	c.[−6773_−6588del]+[−6773_−6588del]	Promoter exon 1	…	Not synthesized
3 and 5	c.[114delA]+[114delA]	Exon 3	Frameshift	Truncation
7	c.[226C→T]+ [226C→T]	Exon 3	p.Q76X	Truncation
6	c.[316G→C]+[316G→C]	Exon 4	p.G106R	Substitution
2	c.[1328delT]+[1328delT]	Exon 11	Frameshift	Truncation
4	c.[1342delG]+[1342delG]	Exon 12	p.V448X	Truncation
TM:
4	c.[T552C]+[-]	Exon 6	p.I184I	Aberrant splicing?
6	c.[*27G→T]+[-]	3′ UTR	Unknown	Unknown
Normal:
30	c.[989C→T]+[-]	Exon 9	p.T330M	Substitution