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. Author manuscript; available in PMC: 2012 Feb 1.
Published in final edited form as: Am J Med Genet A. 2010 Dec 22;155(2):337–342. doi: 10.1002/ajmg.a.33807

TABLE II.

Summary of C16orf57 Mutations in PN Patients

Mutation Type Location Reference
c.179delC Deletion/frameshift Exon 2 Tanaka et al., 2010
c.243G>A/W81X Nonsense Exon 2 Arnold et al., 2010
c.266-1G>A Splice site (acceptor) Intron 2 This study
c.415C>T/Q139X Nonsense Exon 3 This study
c.489_492del4 Deletion/frameshift Exon 4 This study
c.496delA Deletion/frameshift Exon 4 This study
c.502A>G/R168G Missense Exon 4 Volpi et al., 2009
c.504-2A>C Splice site (acceptor) Intron 4 Volpi et al., 2009
c.541C>T/Q181X Nonsense Exon 5 This study
c.673C>T/Q225X Nonsense Exon 6 This study
*c.683_693+1del12 Deletion Exon 6 Volpi et al., 2009
c.693+1G>T Splice site (donor) Intron 6 This study
*

Previously designated c.666_676+1del12 (Volpi et al., 2010)