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. 2017 Jan;56(1):29–37. doi: 10.1165/rcmb.2016-0053OC

Table 1.

Summary of Bioinformatics Analyses of Top-Ranking SNPs on the Human MYLK Gene

Chromosome Position SNP ID Reference Allele Alternate Allele Frequency dPSI SpliceScan Change Predicted Outcome
3 123451738 rs147245669 C T 0.0005 −58.9 Donor = 0.01
Exon 11 score = 0
Increased MLCK 2;
more skipping
3 123451743 rs77323602 T C 0.01 5.44 Donor = 0.92
Exon 11 score = 0.15
Increased MLCK1;
more inclusion

Definition of abbreviations: C, cytosine; dPSI, change in percent of transcripts with the exon spliced in; MLCK, myosin light-chain kinase; SNP, single-nucleotide polymorphism; T, thymine.