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Table 3 Private variants in mitochondrial DNA of Leonberger dogs

From: Genomic diversity and population structure of the Leonberger dog breed

Gene Variant designationa Proportion of variantb OMIM/OMIA number Type
tRNA-Phe m.49A > G 96% 590070 Unknown
tRNA-Val m.1069 T > C 99% 590105 Unknown
ND2 m.4764 T > C; p.Ile284Thr 100% 516001 Missense
COX1 m.5681A > G 66%, 89% 516030 Synonymous
ND4 m.11211C > T 72%, 66% 516003 Synonymous
ND5 m.13118 T > C 62% 516005 Synonymous
ND5 m.13544A > G 100%, 100%, 100%, 100% 516005 Synonymous
  1. aAll positions refer to the CanFam3.1 reference sequence assembly
  2. bPercentage of variant represents heteroplasmy, 100% represents homoplasmy, for each dog that carries the variant calculated from the coverage of the affected mtDNA region
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