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. Author manuscript; available in PMC: 2016 Aug 1.
Published in final edited form as: Circ Cardiovasc Genet. 2015 May 29;8(4):544–552. doi: 10.1161/CIRCGENETICS.115.001026

Table 1.

LVNC Family sequencing results - for each of the five LVNC families in this study, the number of affected and unaffected individuals sequenced, the implicated candidate disease causing gene, mutation and in silico predictions are given. Pedigrees are available in Supplementary Figure 1.

Family ID Affected Individuals Sequenced/Total in pedigree Unaffected Individuals Sequenced/Total in pedigree Gene Mutation (HG19 Coordinates) PolyPhen-2 Prediction (score) Mutation Taster Prediction
A 4/5 1/4 TPM1 p.D275H (chr15:g.23857430C>C) Probably damaging (0.992) Disease causing
B 5/7 0/2 MYH7 p.S648L (chr14:g.23896462G>A) Possibly damaging (0.906) Disease causing
C 2/2 2/6 NNT c.638_639insT (chr5:g.43619172insT) N/A Disease causing
D 2/2 0/2 MYH7 p.Q163P (chr14:g.23901862T>G) Probably damaging (0.979) Disease causing
E 4/4 3/4 MYH7 p.E700G (chr14:g.23895236T>C) Probably damaging (0.997) Disease causing