Characteristics of suspected mtDNA mutations detected by sequence analysis in mitochondrial diabetic patients and their bioinformatic analysis.
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aAmino acid conservation evaluated with the ClustalW program, C: conserved/semi-conserved, N: not conserved, H: highly conserved.
bScore: T (tolerated: Score >0.05): The substitution is predicted to be functionally neutral, A (affected: score <0.05): The substitution is predicted to affect protein function.
cEvaluated with the Poliphen program (see Materials and Method for details). Benign: changes most likely lack a phenotypic effect; Possibly damaging: reflects a likelihood of affecting protein function or structure.
dWhen there is no reference, the variant was reported in MITOMAP, which is a human mitochondrial genome database http://www.mitomap.org.
eHeteroplasmic variants.
创建时间:
2012-04-19



