Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

Table 3 Variants identified by whole genome sequencing in Family A

Chr	Genomic Location	Mutation type	Gene name	Ref Allele	Var Allele	Protein change	Deleterious-ness (CPPred)
10	62214606	Nonsyn SNP	CDC2	C	T	c.175C>T:p.Arg59Cys	−10
2	179118837	Nonsyn SNP	TTN	C	T	c.90449G>A:p.Gly30150Asp	−9
11	72144446	Nonsyn SNP	NY-CO-28, STARD10	C	T	c.578G>A:p.Gly193Asp	−6
16	5080536	Nonsyn SNP	FAM86A	C	A	c.374G>T:p.Ser125Ile	−2
18	65945866	Nonsyn SNP	RTTN	T	C	c.3235A>G:p.Ile1079Val	3

These variants (except for the CDC2 variant that is a rare polymorphism designated as rs8755) have been submitted to the GenBank; the accession numbers are [GeneBank:JX424570] for the TTN variant, [GeneBank:JX424571] for the NY-CO-28,STARD10 variant, [GeneBank:JX424572] for the FAM86A variant, and [GeneBank:JX424573] for the RTTN variant.

ISSN: 1471-2377