Ribonucleic acid binding motif protein 20 sequence variants

摘要

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.

主权项

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 and a nucleic acid sequence heterologous to said RBM20 nucleic acid sequence, 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, wherein said mutation is selected from the group consisting of Arg636Ser and Arg636His, and wherein said RBM20 nucleic acid sequence is separated from nucleic acids that normally flank both sides of said RBM20 nucleic acid sequence in the human genome.