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Human DNA Polymerase Gamma Mutation Database

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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: Q497H
cDNA Position: 1491 g→c (exon 8)
Disease Genetics Frequency Reference
Ataxia Syndrome Found allelic (cis) with W748S + E1143G 1 in 97 found in healthy controls and 1 in 99 found mtDNA disease patients (Winterthun et al., 2005)
PubMed
Alpers, Ataxia Neuropathy In cis with W748S-E1143G. Also found in trans w/G848S, and also in trans w/A467T. (Wong et al., 2008)
PubMed
Alpers In cis w/ W748S and E1143G, and in trans w/ G848S. Found in one child w/ a normal brain MRI (Brunetti-Pierri et al., 2008)
PubMed
Alpers Found in cis with E1143G and W748S, and in trans with A467T in a 6 y.o. with epilepsy and encephalopathy 7 of 136 mitochondrial disease Finnish children, and screened against 370 control DNA samples (Isohanni et al., 2011)
PubMed
Charcot-Marie Tooth Disease Found w/W748S in a Norweign family with Charcot-Marie Tooth Disease. Total of 245 affected persons from 116 Charcot-Marie tooth disease families in Akershus County Norway. (Hoyer et al., 2014)
PubMed
MDS Found in a large cohort study. (Hikmat et al., 2020)
PubMed
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