International Scholarly Research Notices

Clinical Study

Novel m.15434C > A (p.230L > I) Mitochondrial Cytb Gene Missense Mutation Associated with Dilated Cardiomyopathy

Table 3

Silent mutations (synonymous single nucleotide polymorphisms) in the mtDNA cytochrome b gene (MT-CYB) identified in patients with CMP.
Variants dCMP 𝑛 = 4 0 hCMP 𝑛 = 3 0 Controls 𝑛 = 5 0 Amino acid position Status
T14935C100F63FPolymorphism
T15344C100L200LPolymorphism
C15632T100L296LPolymorphism
A15679G110K311KPolymorphism
A15799G100G351GPolymorphism
T14783C002L13LPolymorphism
C14905A111M53MPolymorphism
G15043A114G99GPolymorphism
T15115C100T123TPolymorphism
G15148A100P134PPolymorphism
A15244G101G166GPolymorphism
G15301A114L185LPolymorphism
T15454C010L236LPolymorphism
T15514C110 Y256YPolymorphism
T15530C100L262LPolymorphism
T15787C100F347FPolymorphism
The 16 variants were interpreted as synonymous mutations, which do not cause any amino acid change, and were reported as single nucleotide polymorphisms in MITOMAP: A Human Mitochondrial Genome Database. (http://www.mitomap.org/, 2011).