Variant: rs199474658 

    present in Gene: ND1;TRNL1;ND2
    present in Chromosome: MT
    Position on Chromosome: 3271
    Alleles of this Variant: T/C

rs199474658 in ND1;TRNL1;ND2 gene and MELAS Syndrome PMID 1932147 1991 A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

PMID 8280119 1993 Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function.