Investigated DSG2-variants.
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All data were obtained from the ARVC database [64] and the corresponding references. TFC = task force criteria, EC = extracellular cadherin domain, DCM = dilatative cardiomyopathy.
aThe prevalence in controls for the DSG2-V392I was adapted to the results in our research group [35].
bGrantham, R. (1974). “Amino acid difference formula to help explain protein evolution.” Science 185(4154):862–864.; Li, W. H., C. I. Wu, et al. (1984). “Nonrandomness of point mutation as reflected in nucleotide substitutions in pseudogenes and its evolutionary implications.” J Mol Evol 21(1): 58–71.
cKumar, P., S. Henikoff, et al. (2009). “Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.” Nat Protoc 4(7): 1073–1081.
dRamensky, V., P. Bork, et al. (2002). “Human non-synonymous SNPs: server and survey.” Nucleic Acids Res 30(17): 3894–3900.
创建时间：
2012-10-10
