Variant: rs387906419 

    present in Gene: COX3;COX1;COX2;TRNS1;ATP8;ATP6
    present in Chromosome: MT
    Position on Chromosome: 7497
    Alleles of this Variant: G/A

rs387906419 in COX3;COX1;COX2;TRNS1;ATP8;ATP6 gene and MELAS Syndrome PMID 9778262 1998 Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.

PMID 14605505 2003 Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene.

PMID 20064630 2010 Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations.

PMID 16199753 2005 A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations.