Ribonucleic acid binding motif protein 20 sequence variants
View Patent ↗This document relates to methods and materials for using nucleic acid and amino acid sequence variants of ribonucleic acid binding motif protein 20 (RBM20). For example, methods and materials for using nucleic acid sequence variants and/or their corresponding amino acid variants of RBM20 that are associated with dilated cardiomyopathy to identify mammals (e.g., humans) at risk of having dilated cardiomyopathy that is likely to progress to heart failure are provided.
1. A fusion nucleic acid comprising a ribonucleic acid binding motif protein 20 (RBM20) nucleic acid sequence encoding a fragment of a RBM20 polypeptide that is 22 to 100 amino acid residues in length, a nucleic acid sequence heterologous to said RBM20 nucleic acid sequence, and a fluorescent label, wherein said fragment of said RBM20 polypeptide comprises a mutation with respect to a reference sequence, wherein said reference sequence is set forth in SEQ ID NO:3, and wherein said mutation is Arg636Ser or Arg636His.
2. The fusion nucleic acid of claim 1 , wherein said nucleic acid sequence heterologous to said RBM20 nucleic acid sequence is a nucleic acid sequence encoding a tag.