Table 3.

TTN Filtered Variants Identified in Exome Analysis and Validated With Sanger Sequencing That Segregated in Families With Dilated Cardiomyopathy

Hg19 PositionFamily IdentificationVariant Function ClassPhastConsGERPGranthamAdditional Filtered Variants in FamilyMAF % (EA)MAF % (AA)cDNAProtein
Truncating
chr2:179481235A: F128Stop-gained1.003.90N/A0 (0)00.03c.40579C>TArg13527stop
chr2:179447693B: F533Stop-gained1.005.02N/A4 (2)00c.58133C>GSer19378stop
chr2:179424036C: F27Splice-50.995.61N/A11 (8)00N/AIVS 275+2 T>A
chr2:179424036D: F40Splice-50.995.61N/A32 (17)00N/AIVS 275+2 T>A
chr2:179413874E: F2BFrameshiftN/AN/AN/A27 (14)00c.84774insTVal28259SerfsX22
chr2:179411904F: F19FrameshiftN/AN/AN/A23 (18)00c.86640delAGAALys28880AsnfsX8
chr2:179400115G: F35Stop-gained1.004.64N/A23 (10)00c.93523C>TArg31175stop
Missense
chr2:179635998B: F533Missense0.982.44294 (2)00c.8056A>GIle2686Val
chr2:179410975D: F40Missense1.005.6612532 (17)00.06c.87379G>AGly29127Arg
  • MAF% indicates percent minor allele frequency from 5379 exomes in the Exome Variant Server (EVS), given in European American (EA) and African American (AA) populations. The number of additional filtered variants in other genes identified in each family with a TTN variant are given; the number of variants under more stringent filtering criteria of <0.05% in the EVS is given in parentheses. Conservation scores are given as PhastCons and GERP.