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Human DNA Polymerase Gamma Mutation Database


All inquiries, additions to the list, and comments should be made to Bill Copeland.

To search for multiple exons, hold <Ctrl> while selecting multiple options.

Amino Acid Substitution: K561M
cDNA Position: 1882 a→t (exon 9)
Disease Genetics Frequency Reference
Dysmorphy, hypotonia, coloboma, heart failure, and liver insufficiency Compound heterozygosity in cis with W748S Sarzi et al. 2007 reported 2% (n=50) of patients with multiple respiratory chain deficiency with a 35% decrease of mtDNA were found with the mutation K561M in cis with W748S. (Sarzi et al., 2007)
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