present in Gene: TRNL1;ND2;ND1
present in Chromosome: MT
Position on Chromosome: 3256
Alleles of this Variant: C/T
rs199474659 in
TRNL1;ND2;ND1 gene and
MELAS Syndrome
PMID 8254046 1993 Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
PMID 7804130 1994 A mitochondrial tRNA(Leu)(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).