Table 1.

Effects of SUN5 Mutations, Predicted with In Silico Tools

Chromosome 20 Coordinates	cDNA Alteration	Amino Acid Alteration	Exon	Mutation	ExAC Allele Frequency	ExAC Homozygotes Frequency	NNSplice	SIFT	PolyPhen-2	MutationTaster
31,573,615G>A	c.824C>T	p.Thr275Met	11	missense	4/121,306	0/121,306	–	0.00 (D)	0.999 (D)	1.000 (D)
31,571,674G>A	c.1066C>T	p.Arg356Cys	13	missense	6/121,306	0/121,306	–	0.00 (D)	0.999 (D)	1.000 (D)
31,583,474A>T	c.485T>A	p.Met162Lys	8	missense	not found	not found	–	0.02 (D)	0.042 (B)	0.778 (N)b
31,585,452CT>C	c.381delA	p.Val128Serfs∗7	6	frameshift	27/121,228	0/121,228	–	–	–	1.000 (D)
31,573,658C>T	c.781G>A	p.Val261Met	11	missense	not found	not found	–	0.04 (D)	0.999 (D)	0.987 (D)
31,589,080C>T	c.216G>A	p.Trp72∗	4	nonsense	not found	not found	–	–	–	1.000 (D)
31,571,697T>A	c.1043A>T	p.Asn348Ile	13	missense	9/120,234	0/120,234	–	0.01 (D)	0.985 (D)	0.993 (D)
31,584,129C>T	c.425+1G>A	–	7	splice site	2/121,152	0/121,152	1.00 to <0.10a	–	–	1.000 (D)
31,573,588G>C	c.851C>G	p.Ser284∗	11	nonsense	not found	not found	–	–	–	1.000 (D)
31,587,880C>T	c.340G>A	p.Gly114Arg	5	splice site	not found	not found	0.52 to <0.10a	0.35 (T)	0.954 (D)	0.990 (D)

(D), deleterious; (N), neutral; (T), tolerated; (B), benign.

^aThe mutations c.425+1G>A and p.Gly114Arg were predicted to cause loss of a donor splice site.

^bThe mutation p.Met162Lys was predicted by MutationTaster to cause loss of coil structure.