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A C-to-A mutation at postition 4739 of the mitochondrial DNA results in a leucine (CTA codon) to methionine (miochondrial codon ATA) substitution at amino acid residue 276 (p.L276M) in the mitochondrial NADH dehydrogenase 2 gene. (J:97969)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
