Identification of deleterious single nucleotide polymorphism (SNP)s in the human gene & prediction of their structural & functional consequences: An approach.

T-box transcription factor 5 gene () encodes the transcription factor TBX5, which plays a crucial role in the development of heart and upper limbs. Damaging single nucleotide variants in this gene alter the protein structure, disturb the functions of TBX5, and ultimately cause Holt-Oram Syndrome (HOS). By analyzing the available single nucleotide polymorphism information in the dbSNP database, this study was designed to identify the most deleterious SNPs through approaches and predict their structural and functional consequences.