Rbm20^em1Hide

CRISPR/Cas9 technology generated a T to G nucleotide change resulting in a serine to alanine substitution at amino acid 637 (p.S637A). This mutation is equivalent to the S635A mutation reported in a familial case of dilated cardiomyopathy. RT-PCR indicates the absence of the N2B isoform of titin and expression of a giant N2BA isoform (N2BA-G) which includes exons 215-218, in homozygous hearts indicating that isoform switching of titin regulated by RBM20 is affected. by RBM20 (J:263135)